<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0016-3813</journal-id>
<journal-title><![CDATA[Gaceta médica de México]]></journal-title>
<abbrev-journal-title><![CDATA[Gac. Méd. Méx]]></abbrev-journal-title>
<issn>0016-3813</issn>
<publisher>
<publisher-name><![CDATA[Academia Nacional de Medicina de México A.C.]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0016-38132019000100058</article-id>
<article-id pub-id-type="doi">10.24875/gmm.18003473</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Ataxina-2, nuevo blanco en enfermedades genéticas complejas]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez-García]]></surname>
<given-names><![CDATA[Sergio Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sánchez-Corona]]></surname>
<given-names><![CDATA[José]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ortega-Pacheco]]></surname>
<given-names><![CDATA[Diego]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ramírez-Bohórquez]]></surname>
<given-names><![CDATA[Eric]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[García-Cruz]]></surname>
<given-names><![CDATA[Diana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de la Sierra Sur  ]]></institution>
<addr-line><![CDATA[Oaxaca ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Instituto Mexicano del Seguro Social Centro de Investigaciones Biomédicas de Occidente ]]></institution>
<addr-line><![CDATA[ Jalisco]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidad de la Sierra Sur  ]]></institution>
<addr-line><![CDATA[Oaxaca ]]></addr-line>
<country>Mexico</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad de Guadalajara Instituto de Genética Humana “Dr. Enrique Corona Rivera” ]]></institution>
<addr-line><![CDATA[ Jalisco]]></addr-line>
<country>México</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>02</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>02</month>
<year>2019</year>
</pub-date>
<volume>155</volume>
<numero>1</numero>
<fpage>58</fpage>
<lpage>62</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_arttext&amp;pid=S0016-38132019000100058&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_abstract&amp;pid=S0016-38132019000100058&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.mx/scielo.php?script=sci_pdf&amp;pid=S0016-38132019000100058&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen El gen de la ataxina-2 es un blanco en la patogénesis de enfermedades complejas, entre ellas los factores de riesgo cardiovascular y enfermedades neurodegenerativas. El gen ATXN2 tiene un VNTR en el exón 1, cuya expansión por encima de las 30 repeticiones provoca al desarrollo de ataxia espinocerebelosa tipo 2; las repeticiones en rango menor se asocian con diabetes tipo 2 o esclerosis lateral amiotrófica. También este locus está ligado con fenotipos metabólicos e inflamatorios. En conclusión, el gen puede ser utilizado como marcador clínico de fenotipos metabólicos y neurológicos, lo cual está relacionado con su efecto pleiotrópico.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract The ataxin 2 gene is a target in the pathogenesis of complex diseases, including cardiovascular risk factors and neurodegenerative diseases. ATXN2 gen has VNTR in exon 1, whose expansion exceeding 30 repetitions leads to the development of spinocerebellar ataxia type 2; lower-range repetitions are associated with type 2 diabetes or amyotrophic lateral sclerosis. This locus is also linked with metabolic and inflammatory phenotypes. In conclusion, this gene can be used as a clinical marker of metabolic and neurological phenotypes, which is related to its pleiotropic effect.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Ataxina-2]]></kwd>
<kwd lng="es"><![CDATA[Glaucoma]]></kwd>
<kwd lng="es"><![CDATA[Inflamación]]></kwd>
<kwd lng="es"><![CDATA[Microcirculación]]></kwd>
<kwd lng="es"><![CDATA[Parkinsonismo]]></kwd>
<kwd lng="en"><![CDATA[Ataxin 2]]></kwd>
<kwd lng="en"><![CDATA[Glaucoma]]></kwd>
<kwd lng="en"><![CDATA[Inflammation]]></kwd>
<kwd lng="en"><![CDATA[Microcirculation]]></kwd>
<kwd lng="en"><![CDATA[Parkinsonism]]></kwd>
</kwd-group>
</article-meta>
</front><back>
<ref-list>
<ref id="B1">
<label>1</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Nkiliza]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Chartier-Harlin]]></surname>
<given-names><![CDATA[MC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ATXN2a culprit with multiple facets]]></article-title>
<source><![CDATA[Oncotarget]]></source>
<year>2017</year>
<volume>8</volume>
<page-range>34028-9</page-range></nlm-citation>
</ref>
<ref id="B2">
<label>2</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lastres-Becker]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Rüb]]></surname>
<given-names><![CDATA[U]]></given-names>
</name>
<name>
<surname><![CDATA[Auburger]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Spinocerebellar ataxia 2 (SCA2)]]></article-title>
<source><![CDATA[Cerebellum]]></source>
<year>2008</year>
<volume>7</volume>
<page-range>115-24</page-range></nlm-citation>
</ref>
<ref id="B3">
<label>3</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Fittschen]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Lastres-Becker]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Halbach]]></surname>
<given-names><![CDATA[MV]]></given-names>
</name>
<name>
<surname><![CDATA[Damrath]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Gispert]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Azizov]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate]]></article-title>
<source><![CDATA[Neurogenetics]]></source>
<year>2015</year>
<volume>16</volume>
<page-range>181-92</page-range></nlm-citation>
</ref>
<ref id="B4">
<label>4</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ma]]></surname>
<given-names><![CDATA[L]]></given-names>
</name>
<name>
<surname><![CDATA[Hanson]]></surname>
<given-names><![CDATA[RL]]></given-names>
</name>
<name>
<surname><![CDATA[Traurig]]></surname>
<given-names><![CDATA[MT]]></given-names>
</name>
<name>
<surname><![CDATA[Muller]]></surname>
<given-names><![CDATA[YL]]></given-names>
</name>
<name>
<surname><![CDATA[Kaur]]></surname>
<given-names><![CDATA[BP]]></given-names>
</name>
<name>
<surname><![CDATA[Perez]]></surname>
<given-names><![CDATA[JM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Evaluation of A2BP1 as an obesity gene]]></article-title>
<source><![CDATA[Diabetes]]></source>
<year>2010</year>
<volume>59</volume>
<page-range>2837-45</page-range></nlm-citation>
</ref>
<ref id="B5">
<label>5</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Figueroa]]></surname>
<given-names><![CDATA[KP]]></given-names>
</name>
<name>
<surname><![CDATA[Farooqi]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Harrup]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Frank]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[O'Rahilly]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Pulst]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity]]></article-title>
<source><![CDATA[PLoS One]]></source>
<year>2009</year>
<volume>4</volume>
<page-range>e8280</page-range></nlm-citation>
</ref>
<ref id="B6">
<label>6</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kiehl]]></surname>
<given-names><![CDATA[TR]]></given-names>
</name>
<name>
<surname><![CDATA[Nechiporuk]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Figueroa]]></surname>
<given-names><![CDATA[KP]]></given-names>
</name>
<name>
<surname><![CDATA[Keating]]></surname>
<given-names><![CDATA[MT]]></given-names>
</name>
<name>
<surname><![CDATA[Huynh]]></surname>
<given-names><![CDATA[DP]]></given-names>
</name>
<name>
<surname><![CDATA[Pulst]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Generation and characterization of Sca2 (ataxin-2) knockout mice]]></article-title>
<source><![CDATA[Biochem Biophys Res Commun]]></source>
<year>2006</year>
<volume>339</volume>
<page-range>17-24</page-range></nlm-citation>
</ref>
<ref id="B7">
<label>7</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lastres-Becker]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Nonis]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Eich]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Klinkenberg]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Gorospe]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kötter]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation]]></article-title>
<source><![CDATA[Biochim Biophys Acta]]></source>
<year>2016</year>
<volume>1862</volume>
<page-range>1558-69</page-range></nlm-citation>
</ref>
<ref id="B8">
<label>8</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Lastres-Becker]]></surname>
<given-names><![CDATA[I]]></given-names>
</name>
<name>
<surname><![CDATA[Brodesser]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Lütjohann]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Azizov]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Buchmann]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Hintermann]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice]]></article-title>
<source><![CDATA[Hum Mol Genet]]></source>
<year>2008</year>
<volume>17</volume>
<page-range>1465-81</page-range></nlm-citation>
</ref>
<ref id="B9">
<label>9</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Drost]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Nonis]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Eich]]></surname>
<given-names><![CDATA[F]]></given-names>
</name>
<name>
<surname><![CDATA[Leske]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Damrath]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Brunt]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ataxin-2 modulates the levels of Grb2 and Src but not Ras signaling]]></article-title>
<source><![CDATA[J Mol Neurosci]]></source>
<year>2013</year>
<volume>51</volume>
<page-range>68-81</page-range></nlm-citation>
</ref>
<ref id="B10">
<label>10</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Auburger]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Gispert]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Lahut]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Omür]]></surname>
<given-names><![CDATA[O]]></given-names>
</name>
<name>
<surname><![CDATA[Damrath]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Heck]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[12q24 locus association with type 1 diabetes:SH2B3 orATXN2?]]></article-title>
<source><![CDATA[World J Diabetes]]></source>
<year>2014</year>
<volume>5</volume>
<page-range>316-27</page-range></nlm-citation>
</ref>
<ref id="B11">
<label>11</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Flores-Alvarado]]></surname>
<given-names><![CDATA[LJ]]></given-names>
</name>
<name>
<surname><![CDATA[Dávalos-Rodríguez]]></surname>
<given-names><![CDATA[NO]]></given-names>
</name>
<name>
<surname><![CDATA[García-Cruz]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Madrigal-Ruiz]]></surname>
<given-names><![CDATA[PM]]></given-names>
</name>
<name>
<surname><![CDATA[Ruiz-Mejía]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[Aguilar-Aldrete]]></surname>
<given-names><![CDATA[ME]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[(CAG)n polymorphism of theATXN2gene, a new marker of susceptibility for type 2 diabetes mellitus]]></article-title>
<source><![CDATA[Rev Panam Salud Publica]]></source>
<year>2016</year>
<volume>40</volume>
<page-range>318-24</page-range></nlm-citation>
</ref>
<ref id="B12">
<label>12</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Kraja]]></surname>
<given-names><![CDATA[AT]]></given-names>
</name>
<name>
<surname><![CDATA[Chasman]]></surname>
<given-names><![CDATA[DI]]></given-names>
</name>
<name>
<surname><![CDATA[North]]></surname>
<given-names><![CDATA[KE]]></given-names>
</name>
<name>
<surname><![CDATA[Reiner]]></surname>
<given-names><![CDATA[AP]]></given-names>
</name>
<name>
<surname><![CDATA[Yanek]]></surname>
<given-names><![CDATA[LR]]></given-names>
</name>
<name>
<surname><![CDATA[Kilpeläinen]]></surname>
<given-names><![CDATA[TO]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Pleiotropic genes for metabolic syndrome and inflammation]]></article-title>
<source><![CDATA[Mol Genet Metab]]></source>
<year>2014</year>
<volume>112</volume>
<page-range>317-38</page-range></nlm-citation>
</ref>
<ref id="B13">
<label>13</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[H]]></given-names>
</name>
<name>
<surname><![CDATA[Mo]]></surname>
<given-names><![CDATA[XB]]></given-names>
</name>
<name>
<surname><![CDATA[Xu]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Bu]]></surname>
<given-names><![CDATA[XQ]]></given-names>
</name>
<name>
<surname><![CDATA[Lei]]></surname>
<given-names><![CDATA[SF]]></given-names>
</name>
<name>
<surname><![CDATA[Zhang]]></surname>
<given-names><![CDATA[YH]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Novel genes affecting blood pressure detected via gene-based association analysis]]></article-title>
<source><![CDATA[G3 (Bethesda)]]></source>
<year>2015</year>
<volume>5</volume>
<page-range>1035-42</page-range></nlm-citation>
</ref>
<ref id="B14">
<label>14</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Soranzo]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Spector]]></surname>
<given-names><![CDATA[TD]]></given-names>
</name>
<name>
<surname><![CDATA[Mangino]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Kühnel]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Rendon]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Teumer]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium]]></article-title>
<source><![CDATA[Nat Genet]]></source>
<year>2009</year>
<volume>41</volume>
<page-range>1182-90</page-range></nlm-citation>
</ref>
<ref id="B15">
<label>15</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ikram]]></surname>
<given-names><![CDATA[MK]]></given-names>
</name>
<name>
<surname><![CDATA[Sim]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Jensen]]></surname>
<given-names><![CDATA[RA]]></given-names>
</name>
<name>
<surname><![CDATA[Cotch]]></surname>
<given-names><![CDATA[MF]]></given-names>
</name>
<name>
<surname><![CDATA[Hewitt]]></surname>
<given-names><![CDATA[AW]]></given-names>
</name>
<name>
<surname><![CDATA[Ikram]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo]]></article-title>
<source><![CDATA[PLoS Genet]]></source>
<year>2010</year>
<volume>6</volume>
<page-range>e1001184</page-range></nlm-citation>
</ref>
<ref id="B16">
<label>16</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ganesh]]></surname>
<given-names><![CDATA[SK]]></given-names>
</name>
<name>
<surname><![CDATA[Zakai]]></surname>
<given-names><![CDATA[NA]]></given-names>
</name>
<name>
<surname><![CDATA[Van-Rooij]]></surname>
<given-names><![CDATA[FJ]]></given-names>
</name>
<name>
<surname><![CDATA[Soranzo]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Smith]]></surname>
<given-names><![CDATA[AV]]></given-names>
</name>
<name>
<surname><![CDATA[Nalls]]></surname>
<given-names><![CDATA[MA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium]]></article-title>
<source><![CDATA[Nat Genet]]></source>
<year>2009</year>
<volume>41</volume>
<page-range>1191-8</page-range></nlm-citation>
</ref>
<ref id="B17">
<label>17</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Meierhofer]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Halbach]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[&#350;en]]></surname>
<given-names><![CDATA[NE]]></given-names>
</name>
<name>
<surname><![CDATA[Gispert]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Auburger]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Ataxin-2 (Atxn2)-knock-out mice show branched chain amino acids and fatty]]></article-title>
<source><![CDATA[Mol Cell Proteomics]]></source>
<year>2016</year>
<volume>15</volume>
<page-range>1728-39</page-range></nlm-citation>
</ref>
<ref id="B18">
<label>18</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Abdel-Aleem]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Zaki]]></surname>
<given-names><![CDATA[MS]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy]]></article-title>
<source><![CDATA[J Neurol]]></source>
<year>2008</year>
<volume>255</volume>
<page-range>413-9</page-range></nlm-citation>
</ref>
<ref id="B19">
<label>19</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Huynh]]></surname>
<given-names><![CDATA[DP]]></given-names>
</name>
<name>
<surname><![CDATA[Maalouf]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Silva]]></surname>
<given-names><![CDATA[AJ]]></given-names>
</name>
<name>
<surname><![CDATA[Schweizer]]></surname>
<given-names><![CDATA[FE]]></given-names>
</name>
<name>
<surname><![CDATA[Pulst]]></surname>
<given-names><![CDATA[SM]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Dissociated fear and spatial learning in mice with deficiency of ataxin-2]]></article-title>
<source><![CDATA[PLoS One]]></source>
<year>2009</year>
<volume>4</volume>
<page-range>e6235</page-range></nlm-citation>
</ref>
<ref id="B20">
<label>20</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Scoles]]></surname>
<given-names><![CDATA[DR]]></given-names>
</name>
<name>
<surname><![CDATA[Meera]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Schneider]]></surname>
<given-names><![CDATA[MD]]></given-names>
</name>
<name>
<surname><![CDATA[Paul]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Dansithong]]></surname>
<given-names><![CDATA[W]]></given-names>
</name>
<name>
<surname><![CDATA[Figueroa]]></surname>
<given-names><![CDATA[KP]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Antisense oligonucleotide therapy for spinocerebellar ataxia type 2]]></article-title>
<source><![CDATA[Nature]]></source>
<year>2017</year>
<volume>544</volume>
<page-range>362-6</page-range></nlm-citation>
</ref>
<ref id="B21">
<label>21</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[PP]]></given-names>
</name>
<name>
<surname><![CDATA[Sun]]></surname>
<given-names><![CDATA[X]]></given-names>
</name>
<name>
<surname><![CDATA[Xia]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
<name>
<surname><![CDATA[Arbez]]></surname>
<given-names><![CDATA[N]]></given-names>
</name>
<name>
<surname><![CDATA[Paul]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Zhu]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ATXN2-AS, a gene antisense toATXN2is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis]]></article-title>
<source><![CDATA[Ann Neurol]]></source>
<year>2016</year>
<volume>80</volume>
<page-range>600-15</page-range></nlm-citation>
</ref>
<ref id="B22">
<label>22</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Wild]]></surname>
<given-names><![CDATA[PS]]></given-names>
</name>
<name>
<surname><![CDATA[Felix]]></surname>
<given-names><![CDATA[JF]]></given-names>
</name>
<name>
<surname><![CDATA[Schillert]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Teumer]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[MH]]></given-names>
</name>
<name>
<surname><![CDATA[Leening]]></surname>
<given-names><![CDATA[MJG]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function]]></article-title>
<source><![CDATA[J Clin Invest]]></source>
<year>2017</year>
<volume>127</volume>
<page-range>1798-812</page-range></nlm-citation>
</ref>
<ref id="B23">
<label>23</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Khurana]]></surname>
<given-names><![CDATA[V]]></given-names>
</name>
<name>
<surname><![CDATA[Peng]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
<name>
<surname><![CDATA[Chung]]></surname>
<given-names><![CDATA[CY]]></given-names>
</name>
<name>
<surname><![CDATA[Auluck]]></surname>
<given-names><![CDATA[PK]]></given-names>
</name>
<name>
<surname><![CDATA[Fanning]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Tardiff]]></surname>
<given-names><![CDATA[DF]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genome-scale networks link neurodegenerative disease genes to &#945;-synuclein through specific molecular pathways]]></article-title>
<source><![CDATA[Cell Syst]]></source>
<year>2017</year>
<volume>4</volume>
<page-range>157-70</page-range></nlm-citation>
</ref>
<ref id="B24">
<label>24</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Almaguer-Mederos]]></surname>
<given-names><![CDATA[LE]]></given-names>
</name>
<name>
<surname><![CDATA[Almaguer-Gotay]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Aguilera-Rodríguez]]></surname>
<given-names><![CDATA[R]]></given-names>
</name>
<name>
<surname><![CDATA[González-Zaldívar]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
<name>
<surname><![CDATA[Cuello-Almarales]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Laffita-Mesa]]></surname>
<given-names><![CDATA[J]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2]]></article-title>
<source><![CDATA[J Neurol Sci]]></source>
<year>2017</year>
<volume>372</volume>
<page-range>324-8</page-range></nlm-citation>
</ref>
<ref id="B25">
<label>25</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Ding]]></surname>
<given-names><![CDATA[D]]></given-names>
</name>
<name>
<surname><![CDATA[Li]]></surname>
<given-names><![CDATA[K]]></given-names>
</name>
<name>
<surname><![CDATA[Wang]]></surname>
<given-names><![CDATA[C]]></given-names>
</name>
<name>
<surname><![CDATA[Chen]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Long]]></surname>
<given-names><![CDATA[Z]]></given-names>
</name>
<name>
<surname><![CDATA[Peng]]></surname>
<given-names><![CDATA[Y]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[ATXN2polymorphism modulates age at onset in Machado-Joseph disease]]></article-title>
<source><![CDATA[Brain]]></source>
<year>2016</year>
<volume>139</volume>
<numero>10</numero>
<issue>10</issue>
<page-range>e59</page-range></nlm-citation>
</ref>
<ref id="B26">
<label>26</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Marthaler]]></surname>
<given-names><![CDATA[AG]]></given-names>
</name>
<name>
<surname><![CDATA[Schmid]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Tubsuwan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Poulsen]]></surname>
<given-names><![CDATA[UB]]></given-names>
</name>
<name>
<surname><![CDATA[Engelbrecht]]></surname>
<given-names><![CDATA[AF]]></given-names>
</name>
<name>
<surname><![CDATA[Mau-Holzmann]]></surname>
<given-names><![CDATA[UA]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271]]></article-title>
<source><![CDATA[Stem Cell Res]]></source>
<year>2016</year>
<volume>16</volume>
<page-range>180-3</page-range></nlm-citation>
</ref>
<ref id="B27">
<label>27</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Marthaler]]></surname>
<given-names><![CDATA[AG]]></given-names>
</name>
<name>
<surname><![CDATA[Schmid]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Tubsuwan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Poulsen]]></surname>
<given-names><![CDATA[UB]]></given-names>
</name>
<name>
<surname><![CDATA[Hyttel]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Nielsen]]></surname>
<given-names><![CDATA[TT]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266]]></article-title>
<source><![CDATA[Stem Cell Res]]></source>
<year>2016</year>
<volume>16</volume>
<page-range>166-9</page-range></nlm-citation>
</ref>
<ref id="B28">
<label>28</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Marthaler]]></surname>
<given-names><![CDATA[AG]]></given-names>
</name>
<name>
<surname><![CDATA[Tubsuwan]]></surname>
<given-names><![CDATA[A]]></given-names>
</name>
<name>
<surname><![CDATA[Schmid]]></surname>
<given-names><![CDATA[B]]></given-names>
</name>
<name>
<surname><![CDATA[Poulsen]]></surname>
<given-names><![CDATA[UB]]></given-names>
</name>
<name>
<surname><![CDATA[Hyttel]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Nielsen]]></surname>
<given-names><![CDATA[JE]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271]]></article-title>
<source><![CDATA[Stem Cell Res]]></source>
<year>2016</year>
<volume>16</volume>
<page-range>159-61</page-range></nlm-citation>
</ref>
<ref id="B29">
<label>29</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Bailey]]></surname>
<given-names><![CDATA[JN]]></given-names>
</name>
<name>
<surname><![CDATA[Loomis]]></surname>
<given-names><![CDATA[SJ]]></given-names>
</name>
<name>
<surname><![CDATA[Kang]]></surname>
<given-names><![CDATA[JH]]></given-names>
</name>
<name>
<surname><![CDATA[Allingham]]></surname>
<given-names><![CDATA[RR]]></given-names>
</name>
<name>
<surname><![CDATA[Gharahkhani]]></surname>
<given-names><![CDATA[P]]></given-names>
</name>
<name>
<surname><![CDATA[Khor]]></surname>
<given-names><![CDATA[CC]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Genome-wide association analysis identifies TXNRD2ATXN2and FOXC1 as susceptibility loci for primary open-angle glaucoma]]></article-title>
<source><![CDATA[Nat Genet]]></source>
<year>2016</year>
<volume>48</volume>
<page-range>189-94</page-range></nlm-citation>
</ref>
<ref id="B30">
<label>30</label><nlm-citation citation-type="journal">
<person-group person-group-type="author">
<name>
<surname><![CDATA[Halbach]]></surname>
<given-names><![CDATA[MV]]></given-names>
</name>
<name>
<surname><![CDATA[Gispert]]></surname>
<given-names><![CDATA[S]]></given-names>
</name>
<name>
<surname><![CDATA[Stehning]]></surname>
<given-names><![CDATA[T]]></given-names>
</name>
<name>
<surname><![CDATA[Damrath]]></surname>
<given-names><![CDATA[E]]></given-names>
</name>
<name>
<surname><![CDATA[Walter]]></surname>
<given-names><![CDATA[M]]></given-names>
</name>
<name>
<surname><![CDATA[Auburger]]></surname>
<given-names><![CDATA[G]]></given-names>
</name>
</person-group>
<article-title xml:lang=""><![CDATA[Atxn2 knock-out and CAG42-knock-in cerebellum shows similarly dysregulated expression in calcium homeostasis pathway]]></article-title>
<source><![CDATA[Cerebellum]]></source>
<year>2017</year>
<volume>16</volume>
<page-range>68-81</page-range></nlm-citation>
</ref>
</ref-list>
</back>
</article>
