Adult stem cell deficits drive Slc29a3 disorders in mice
Identifieur interne : 000144 ( Pmc/Curation ); précédent : 000143; suivant : 000145Adult stem cell deficits drive Slc29a3 disorders in mice
Auteurs : Sreenath Nair [États-Unis] ; Anne M. Strohecker [États-Unis] ; Avinash K. Persaud [États-Unis] ; Bhawana Bissa [États-Unis] ; Shanmugam Muruganandan [États-Unis] ; Craig Mcelroy [États-Unis] ; Rakesh Pathak [États-Unis] ; Michelle Williams [États-Unis] ; Radhika Raj [États-Unis] ; Amal Kaddoumi [États-Unis] ; Alex Sparreboom [États-Unis] ; Aaron M. Beedle [États-Unis] ; Rajgopal Govindarajan [États-Unis]Source :
- Nature Communications [ 2041-1723 ] ; 2019.
Abstract
Mutations exclusively in equilibrative nucleoside transporter 3 (ENT3), the only intracellular nucleoside transporter within the solute carrier 29 (
Url:
DOI: 10.1038/s41467-019-10925-3
PubMed: 31270333
PubMed Central: 6610100
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PMC:6610100Le document en format XML
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<author><name sortKey="Govindarajan, Rajgopal" sort="Govindarajan, Rajgopal" uniqKey="Govindarajan R" first="Rajgopal" last="Govindarajan">Rajgopal Govindarajan</name>
<affiliation wicri:level="2"><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id>
<institution-id institution-id-type="GRID">grid.261331.4</institution-id>
<institution>Division of Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy,</institution>
<institution>Ohio State University,</institution>
</institution-wrap>
Columbus, OH 43210 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Ohio</region>
</placeName>
<wicri:cityArea>Columbus</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id>
<institution-id institution-id-type="GRID">grid.261331.4</institution-id>
<institution>Translational Therapeutics, Ohio State University Comprehensive Cancer Center,</institution>
<institution>Ohio State University,</institution>
</institution-wrap>
Columbus, OH 43210 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Ohio</region>
</placeName>
<wicri:cityArea>Columbus</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Nature Communications</title>
<idno type="eISSN">2041-1723</idno>
<imprint><date when="2019">2019</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><p id="Par1">Mutations exclusively in equilibrative nucleoside transporter 3 (ENT3), the only intracellular nucleoside transporter within the solute carrier 29 (<italic>SLC29</italic>
) gene family, cause an expanding spectrum of human genetic disorders (e.g., H syndrome, PHID syndrome, and SHML/RDD syndrome). Here, we identify adult stem cell deficits that drive ENT3-related abnormalities in mice. ENT3 deficiency alters hematopoietic and mesenchymal stem cell fates; the former leads to stem cell exhaustion, and the latter leads to breaches of mesodermal tissue integrity. The molecular pathogenesis stems from the loss of lysosomal adenosine transport, which impedes autophagy-regulated stem cell differentiation programs via misregulation of the AMPK-mTOR-ULK axis. Furthermore, mass spectrometry-based metabolomics and bioenergetics studies identify defects in fatty acid utilization, and alterations in mitochondrial bioenergetics can additionally propel stem cell deficits. Genetic, pharmacologic and stem cell interventions ameliorate ENT3-disease pathologies and extend the lifespan of ENT3-deficient mice. These findings delineate a primary pathogenic basis for the development of ENT3 spectrum disorders and offer critical mechanistic insights into treating human ENT3-related disorders.</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Rossbach, Hc" uniqKey="Rossbach H">HC Rossbach</name>
</author>
<author><name sortKey="Dalence, C" uniqKey="Dalence C">C Dalence</name>
</author>
<author><name sortKey="Wynn, T" uniqKey="Wynn T">T Wynn</name>
</author>
<author><name sortKey="Tebbi, C" uniqKey="Tebbi C">C Tebbi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Zur Stadt, U" uniqKey="Zur Stadt U">U Zur Stadt</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Prendiville, J" uniqKey="Prendiville J">J Prendiville</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hussain, K" uniqKey="Hussain K">K Hussain</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Molho Pessach, V" uniqKey="Molho Pessach V">V Molho-Pessach</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Cliffe, St" uniqKey="Cliffe S">ST Cliffe</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Morgan, Nv" uniqKey="Morgan N">NV Morgan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Priya, Tp" uniqKey="Priya T">TP Priya</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ramot, Y" uniqKey="Ramot Y">Y Ramot</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Campeau, Pm" uniqKey="Campeau P">PM Campeau</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Colmenero, I" uniqKey="Colmenero I">I Colmenero</name>
</author>
<author><name sortKey="Molho Pessach, V" uniqKey="Molho Pessach V">V Molho-Pessach</name>
</author>
<author><name sortKey="Torrelo, A" uniqKey="Torrelo A">A Torrelo</name>
</author>
<author><name sortKey="Zlotogorski, A" uniqKey="Zlotogorski A">A Zlotogorski</name>
</author>
<author><name sortKey="Requena, L" uniqKey="Requena L">L Requena</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Farooq, M" uniqKey="Farooq M">M Farooq</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="De Jesus, J" uniqKey="De Jesus J">J de Jesus</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Elbarbary, Ns" uniqKey="Elbarbary N">NS Elbarbary</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Molho Pessach, V" uniqKey="Molho Pessach V">V Molho-Pessach</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Al Haggar, M" uniqKey="Al Haggar M">M Al-Haggar</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Young, Jd" uniqKey="Young J">JD Young</name>
</author>
<author><name sortKey="Yao, Sy" uniqKey="Yao S">SY Yao</name>
</author>
<author><name sortKey="Baldwin, Jm" uniqKey="Baldwin J">JM Baldwin</name>
</author>
<author><name sortKey="Cass, Ce" uniqKey="Cass C">CE Cass</name>
</author>
<author><name sortKey="Baldwin, Sa" uniqKey="Baldwin S">SA Baldwin</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kang, N" uniqKey="Kang N">N Kang</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Baldwin, Sa" uniqKey="Baldwin S">SA Baldwin</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Govindarajan, R" uniqKey="Govindarajan R">R Govindarajan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hsu, Cl" uniqKey="Hsu C">CL Hsu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Rahman, Md Fazlur" uniqKey="Rahman M">Md Fazlur Rahman</name>
</author>
<author><name sortKey="Askwith, Candice" uniqKey="Askwith C">Candice Askwith</name>
</author>
<author><name sortKey="Govindarajan, Rajgopal" uniqKey="Govindarajan R">Rajgopal Govindarajan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Singh, Anusha" uniqKey="Singh A">Anusha Singh</name>
</author>
<author><name sortKey="Govindarajan, Rajgopal" uniqKey="Govindarajan R">Rajgopal Govindarajan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bolze, A" uniqKey="Bolze A">A Bolze</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Melki, I" uniqKey="Melki I">I Melki</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Biteau, B" uniqKey="Biteau B">B Biteau</name>
</author>
<author><name sortKey="Hochmuth, Ce" uniqKey="Hochmuth C">CE Hochmuth</name>
</author>
<author><name sortKey="Jasper, H" uniqKey="Jasper H">H Jasper</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kaufman, Ds" uniqKey="Kaufman D">DS Kaufman</name>
</author>
<author><name sortKey="Hanson, Et" uniqKey="Hanson E">ET Hanson</name>
</author>
<author><name sortKey="Lewis, Rl" uniqKey="Lewis R">RL Lewis</name>
</author>
<author><name sortKey="Auerbach, R" uniqKey="Auerbach R">R Auerbach</name>
</author>
<author><name sortKey="Thomson, Ja" uniqKey="Thomson J">JA Thomson</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Zhang, P" uniqKey="Zhang P">P Zhang</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Guo, L" uniqKey="Guo L">L Guo</name>
</author>
<author><name sortKey="Zhou, Y" uniqKey="Zhou Y">Y Zhou</name>
</author>
<author><name sortKey="Wang, S" uniqKey="Wang S">S Wang</name>
</author>
<author><name sortKey="Wu, Y" uniqKey="Wu Y">Y Wu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Han, J" uniqKey="Han J">J Han</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Garcia Prat, L" uniqKey="Garcia Prat L">L Garcia-Prat</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Settembre, C" uniqKey="Settembre C">C Settembre</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Deter, Rl" uniqKey="Deter R">RL Deter</name>
</author>
<author><name sortKey="Baudhuin, P" uniqKey="Baudhuin P">P Baudhuin</name>
</author>
<author><name sortKey="De Duve, C" uniqKey="De Duve C">C De Duve</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Komatsu, M" uniqKey="Komatsu M">M Komatsu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Klionsky, Dj" uniqKey="Klionsky D">DJ Klionsky</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mortensen, M" uniqKey="Mortensen M">M Mortensen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mortensen, M" uniqKey="Mortensen M">M Mortensen</name>
</author>
<author><name sortKey="Watson, As" uniqKey="Watson A">AS Watson</name>
</author>
<author><name sortKey="Simon, Ak" uniqKey="Simon A">AK Simon</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Vessoni, At" uniqKey="Vessoni A">AT Vessoni</name>
</author>
<author><name sortKey="Muotri, Ar" uniqKey="Muotri A">AR Muotri</name>
</author>
<author><name sortKey="Okamoto, Ok" uniqKey="Okamoto O">OK Okamoto</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kim, Yc" uniqKey="Kim Y">YC Kim</name>
</author>
<author><name sortKey="Guan, Kl" uniqKey="Guan K">KL Guan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Rubinsztein, Dc" uniqKey="Rubinsztein D">DC Rubinsztein</name>
</author>
<author><name sortKey="Codogno, P" uniqKey="Codogno P">P Codogno</name>
</author>
<author><name sortKey="Levine, B" uniqKey="Levine B">B Levine</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Wang, S" uniqKey="Wang S">S Wang</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Pan, H" uniqKey="Pan H">H Pan</name>
</author>
<author><name sortKey="Cai, N" uniqKey="Cai N">N Cai</name>
</author>
<author><name sortKey="Li, M" uniqKey="Li M">M Li</name>
</author>
<author><name sortKey="Liu, Gh" uniqKey="Liu G">GH Liu</name>
</author>
<author><name sortKey="Izpisua Belmonte, Jc" uniqKey="Izpisua Belmonte J">JC Izpisua Belmonte</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Srivastava, Ra" uniqKey="Srivastava R">RA Srivastava</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Laplante, M" uniqKey="Laplante M">M Laplante</name>
</author>
<author><name sortKey="Sabatini, Dm" uniqKey="Sabatini D">DM Sabatini</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ito, K" uniqKey="Ito K">K Ito</name>
</author>
<author><name sortKey="Suda, T" uniqKey="Suda T">T Suda</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hay, N" uniqKey="Hay N">N Hay</name>
</author>
<author><name sortKey="Sonenberg, N" uniqKey="Sonenberg N">N Sonenberg</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Hara, K" uniqKey="Hara K">K Hara</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kim, J" uniqKey="Kim J">J Kim</name>
</author>
<author><name sortKey="Kundu, M" uniqKey="Kundu M">M Kundu</name>
</author>
<author><name sortKey="Viollet, B" uniqKey="Viollet B">B Viollet</name>
</author>
<author><name sortKey="Guan, Kl" uniqKey="Guan K">KL Guan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Viollet, B" uniqKey="Viollet B">B Viollet</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Singh, R" uniqKey="Singh R">R Singh</name>
</author>
<author><name sortKey="Cuervo, Am" uniqKey="Cuervo A">AM Cuervo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Piemontese, M" uniqKey="Piemontese M">M Piemontese</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Jahreiss, L" uniqKey="Jahreiss L">L Jahreiss</name>
</author>
<author><name sortKey="Menzies, Fm" uniqKey="Menzies F">FM Menzies</name>
</author>
<author><name sortKey="Rubinsztein, Dc" uniqKey="Rubinsztein D">DC Rubinsztein</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Muruganandan, S" uniqKey="Muruganandan S">S Muruganandan</name>
</author>
<author><name sortKey="Dranse, Hj" uniqKey="Dranse H">HJ Dranse</name>
</author>
<author><name sortKey="Rourke, Jl" uniqKey="Rourke J">JL Rourke</name>
</author>
<author><name sortKey="Mcmullen, Nm" uniqKey="Mcmullen N">NM McMullen</name>
</author>
<author><name sortKey="Sinal, Cj" uniqKey="Sinal C">CJ Sinal</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Pronk, Cj" uniqKey="Pronk C">CJ Pronk</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Adolfsson, J" uniqKey="Adolfsson J">J Adolfsson</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Muruganandan, S" uniqKey="Muruganandan S">S Muruganandan</name>
</author>
<author><name sortKey="Govindarajan, R" uniqKey="Govindarajan R">R Govindarajan</name>
</author>
<author><name sortKey="Mcmullen, Nm" uniqKey="Mcmullen N">NM McMullen</name>
</author>
<author><name sortKey="Sinal, Cj" uniqKey="Sinal C">CJ Sinal</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Muruganandan, S" uniqKey="Muruganandan S">S Muruganandan</name>
</author>
<author><name sortKey="Roman, Aa" uniqKey="Roman A">AA Roman</name>
</author>
<author><name sortKey="Sinal, Cj" uniqKey="Sinal C">CJ Sinal</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Yamada, K" uniqKey="Yamada K">K Yamada</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Jiqing, C" uniqKey="Jiqing C">C Jiqing</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Miller, Cl" uniqKey="Miller C">CL Miller</name>
</author>
<author><name sortKey="Lai, B" uniqKey="Lai B">B Lai</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Takigami, H" uniqKey="Takigami H">H Takigami</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Wenzel, J" uniqKey="Wenzel J">J Wenzel</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tinsley, Fc" uniqKey="Tinsley F">FC Tinsley</name>
</author>
<author><name sortKey="Taicher, Gz" uniqKey="Taicher G">GZ Taicher</name>
</author>
<author><name sortKey="Heiman, Ml" uniqKey="Heiman M">ML Heiman</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Park, Sm" uniqKey="Park S">SM Park</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lopez Ibanez, J" uniqKey="Lopez Ibanez J">J Lopez-Ibanez</name>
</author>
<author><name sortKey="Pazos, F" uniqKey="Pazos F">F Pazos</name>
</author>
<author><name sortKey="Chagoyen, M" uniqKey="Chagoyen M">M Chagoyen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Xia, J" uniqKey="Xia J">J Xia</name>
</author>
<author><name sortKey="Psychogios, N" uniqKey="Psychogios N">N Psychogios</name>
</author>
<author><name sortKey="Young, N" uniqKey="Young N">N Young</name>
</author>
<author><name sortKey="Wishart, Ds" uniqKey="Wishart D">DS Wishart</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sergushichev, Aa" uniqKey="Sergushichev A">AA Sergushichev</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Yamada, T" uniqKey="Yamada T">T Yamada</name>
</author>
<author><name sortKey="Letunic, I" uniqKey="Letunic I">I Letunic</name>
</author>
<author><name sortKey="Okuda, S" uniqKey="Okuda S">S Okuda</name>
</author>
<author><name sortKey="Kanehisa, M" uniqKey="Kanehisa M">M Kanehisa</name>
</author>
<author><name sortKey="Bork, P" uniqKey="Bork P">P Bork</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sartor, Ma" uniqKey="Sartor M">MA Sartor</name>
</author>
<author><name sortKey="Leikauf, Gd" uniqKey="Leikauf G">GD Leikauf</name>
</author>
<author><name sortKey="Medvedovic, M" uniqKey="Medvedovic M">M Medvedovic</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Schmittgen, Td" uniqKey="Schmittgen T">TD Schmittgen</name>
</author>
<author><name sortKey="Livak, Kj" uniqKey="Livak K">KJ Livak</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Nat Commun</journal-id>
<journal-id journal-id-type="iso-abbrev">Nat Commun</journal-id>
<journal-title-group><journal-title>Nature Communications</journal-title>
</journal-title-group>
<issn pub-type="epub">2041-1723</issn>
<publisher><publisher-name>Nature Publishing Group UK</publisher-name>
<publisher-loc>London</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">31270333</article-id>
<article-id pub-id-type="pmc">6610100</article-id>
<article-id pub-id-type="publisher-id">10925</article-id>
<article-id pub-id-type="doi">10.1038/s41467-019-10925-3</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Adult stem cell deficits drive <italic>Slc29a3</italic>
disorders in mice</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Nair</surname>
<given-names>Sreenath</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Strohecker</surname>
<given-names>Anne M.</given-names>
</name>
<xref ref-type="aff" rid="Aff2">2</xref>
<xref ref-type="aff" rid="Aff3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Persaud</surname>
<given-names>Avinash K.</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bissa</surname>
<given-names>Bhawana</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Muruganandan</surname>
<given-names>Shanmugam</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>McElroy</surname>
<given-names>Craig</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pathak</surname>
<given-names>Rakesh</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Williams</surname>
<given-names>Michelle</given-names>
</name>
<xref ref-type="aff" rid="Aff4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Raj</surname>
<given-names>Radhika</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0001-9792-7766</contrib-id>
<name><surname>Kaddoumi</surname>
<given-names>Amal</given-names>
</name>
<xref ref-type="aff" rid="Aff5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Sparreboom</surname>
<given-names>Alex</given-names>
</name>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Beedle</surname>
<given-names>Aaron M.</given-names>
</name>
<xref ref-type="aff" rid="Aff6">6</xref>
</contrib>
<contrib contrib-type="author" corresp="yes"><name><surname>Govindarajan</surname>
<given-names>Rajgopal</given-names>
</name>
<address><email>govindarajan.21@osu.edu</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff7">7</xref>
</contrib>
<aff id="Aff1"><label>1</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id>
<institution-id institution-id-type="GRID">grid.261331.4</institution-id>
<institution>Division of Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy,</institution>
<institution>Ohio State University,</institution>
</institution-wrap>
Columbus, OH 43210 USA</aff>
<aff id="Aff2"><label>2</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id>
<institution-id institution-id-type="GRID">grid.261331.4</institution-id>
<institution>Department of Cancer Biology and Genetics, College of Medicine,</institution>
<institution>Ohio State University,</institution>
</institution-wrap>
Columbus, OH 43210 USA</aff>
<aff id="Aff3"><label>3</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id>
<institution-id institution-id-type="GRID">grid.261331.4</institution-id>
<institution>Molecular Biology and Cancer Genetics, Ohio State University Comprehensive Cancer Center,</institution>
<institution>Ohio State University,</institution>
</institution-wrap>
Columbus, OH 43210 USA</aff>
<aff id="Aff4"><label>4</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id>
<institution-id institution-id-type="GRID">grid.261331.4</institution-id>
<institution>Department of Radiology,</institution>
<institution>Ohio State University,</institution>
</institution-wrap>
Columbus, OH 43210 USA</aff>
<aff id="Aff5"><label>5</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2297 8753</institution-id>
<institution-id institution-id-type="GRID">grid.252546.2</institution-id>
<institution>Department of Drug Discovery and Development, Harrison School of Pharmacy,</institution>
<institution>Auburn University,</institution>
</institution-wrap>
Auburn, AL 36849 USA</aff>
<aff id="Aff6"><label>6</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2164 4508</institution-id>
<institution-id institution-id-type="GRID">grid.264260.4</institution-id>
<institution>Department of Pharmaceutical Sciences,</institution>
<institution>SUNY Binghamton University,</institution>
</institution-wrap>
Binghamton, NY 13902 USA</aff>
<aff id="Aff7"><label>7</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2285 7943</institution-id>
<institution-id institution-id-type="GRID">grid.261331.4</institution-id>
<institution>Translational Therapeutics, Ohio State University Comprehensive Cancer Center,</institution>
<institution>Ohio State University,</institution>
</institution-wrap>
Columbus, OH 43210 USA</aff>
</contrib-group>
<pub-date pub-type="epub"><day>3</day>
<month>7</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>3</day>
<month>7</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="collection"><year>2019</year>
</pub-date>
<volume>10</volume>
<elocation-id>2943</elocation-id>
<history><date date-type="received"><day>22</day>
<month>12</month>
<year>2017</year>
</date>
<date date-type="accepted"><day>7</day>
<month>6</month>
<year>2019</year>
</date>
</history>
<permissions><copyright-statement>© This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2019</copyright-statement>
<license license-type="OpenAccess"><license-p><bold>Open Access</bold>
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>
.</license-p>
</license>
</permissions>
<abstract id="Abs1"><p id="Par1">Mutations exclusively in equilibrative nucleoside transporter 3 (ENT3), the only intracellular nucleoside transporter within the solute carrier 29 (<italic>SLC29</italic>
) gene family, cause an expanding spectrum of human genetic disorders (e.g., H syndrome, PHID syndrome, and SHML/RDD syndrome). Here, we identify adult stem cell deficits that drive ENT3-related abnormalities in mice. ENT3 deficiency alters hematopoietic and mesenchymal stem cell fates; the former leads to stem cell exhaustion, and the latter leads to breaches of mesodermal tissue integrity. The molecular pathogenesis stems from the loss of lysosomal adenosine transport, which impedes autophagy-regulated stem cell differentiation programs via misregulation of the AMPK-mTOR-ULK axis. Furthermore, mass spectrometry-based metabolomics and bioenergetics studies identify defects in fatty acid utilization, and alterations in mitochondrial bioenergetics can additionally propel stem cell deficits. Genetic, pharmacologic and stem cell interventions ameliorate ENT3-disease pathologies and extend the lifespan of ENT3-deficient mice. These findings delineate a primary pathogenic basis for the development of ENT3 spectrum disorders and offer critical mechanistic insights into treating human ENT3-related disorders.</p>
</abstract>
<abstract id="Abs2" abstract-type="web-summary"><p id="Par2">Mutations in equilibrative nucleoside transporter 3 (ENT3), encoded by <italic>SLC29A3</italic>
, cause a spectrum of human genetic disorders. Here, the authors show altered haematopoietic stem cell and mesenchymal stem cell fates in ENT3-deficient mice, due to misregulation of the AMPK-mTOR-ULK axis.</p>
</abstract>
<kwd-group kwd-group-type="npg-subject"><title>Subject terms</title>
<kwd>Macroautophagy</kwd>
<kwd>Lysosomes</kwd>
<kwd>Haematopoietic stem cells</kwd>
<kwd>Mesenchymal stem cells</kwd>
</kwd-group>
<funding-group><award-group><funding-source><institution-wrap><institution-id institution-id-type="FundRef">https://doi.org/10.13039/100000054</institution-id>
<institution>U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI)</institution>
</institution-wrap>
</funding-source>
<award-id>R01CA188464</award-id>
<principal-award-recipient><name><surname>Raj</surname>
<given-names>Radhika</given-names>
</name>
</principal-award-recipient>
</award-group>
</funding-group>
<funding-group><award-group><funding-source><institution-wrap><institution-id institution-id-type="FundRef">https://doi.org/10.13039/100000069</institution-id>
<institution>U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)</institution>
</institution-wrap>
</funding-source>
<award-id>R03AR063326</award-id>
<principal-award-recipient><name><surname>Raj</surname>
<given-names>Radhika</given-names>
</name>
</principal-award-recipient>
</award-group>
</funding-group>
<custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name>
<meta-value>© The Author(s) 2019</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
</front>
</pmc>
</record>
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