LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
Identifieur interne : 002528 ( PubMed/Corpus ); précédent : 002527; suivant : 002529LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
Auteurs : Lisa G. Riley ; Joëlle Rudinger-Thirion ; Klaus Schmitz-Abe ; David R. Thorburn ; Ryan L. Davis ; Juliana Teo ; Susan Arbuckle ; Sandra T. Cooper ; Dean R. Campagna ; Magali Frugier ; Kyriacos Markianos ; Carolyn M. Sue ; Mark D. Fleming ; John ChristodoulouSource :
- JIMD reports [ 2192-8304 ] ; 2016.
Abstract
Pathogenic variants in mitochondrial aminoacyl-tRNA synthetases result in a broad range of mitochondrial respiratory chain disorders despite their shared role in mitochondrial protein synthesis. LARS2 encodes the mitochondrial leucyl-tRNA synthetase, which attaches leucine to its cognate tRNA. Sequence variants in LARS2 have previously been associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss (OMIM #615300). In this study, we report variants in LARS2 that are associated with a severe multisystem metabolic disorder. The proband was born prematurely with severe lactic acidosis, hydrops, and sideroblastic anemia. She had multisystem complications with hyaline membrane disease, impaired cardiac function, a coagulopathy, pulmonary hypertension, and progressive renal disease and succumbed at 5 days of age. Whole exome sequencing of patient DNA revealed compound heterozygous variants in LARS2 (c.1289C>T; p.Ala430Val and c.1565C>A; p.Thr522Asn). The c.1565C>A (p.Thr522Asn) LARS2 variant has previously been associated with Perrault syndrome and both identified variants are predicted to be damaging (SIFT, PolyPhen). Muscle and liver samples from the proband did not display marked mitochondrial respiratory chain enzyme deficiency. Immunoblotting of patient muscle and liver showed LARS2 levels were reduced in liver and complex I protein levels were reduced in patient muscle and liver. Aminoacylation assays revealed p.Ala430Val LARS2 had an 18-fold loss of catalytic efficiency and p.Thr522Asn a 9-fold loss compared to wild-type LARS2. We suggest that the identified LARS2 variants are responsible for the severe multisystem clinical phenotype seen in this baby and that mutations in LARS2 can result in variable phenotypes.
DOI: 10.1007/8904_2015_515
PubMed: 26537577
Links to Exploration step
pubmed:26537577Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.</title><author><name sortKey="Riley, Lisa G" sort="Riley, Lisa G" uniqKey="Riley L" first="Lisa G" last="Riley">Lisa G. Riley</name><affiliation><nlm:affiliation>Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia. lisa.riley@health.nsw.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Rudinger Thirion, Joelle" sort="Rudinger Thirion, Joelle" uniqKey="Rudinger Thirion J" first="Joëlle" last="Rudinger-Thirion">Joëlle Rudinger-Thirion</name><affiliation><nlm:affiliation>Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Schmitz Abe, Klaus" sort="Schmitz Abe, Klaus" uniqKey="Schmitz Abe K" first="Klaus" last="Schmitz-Abe">Klaus Schmitz-Abe</name><affiliation><nlm:affiliation>Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Thorburn, David R" sort="Thorburn, David R" uniqKey="Thorburn D" first="David R" last="Thorburn">David R. Thorburn</name><affiliation><nlm:affiliation>Department of Paediatrics, Murdoch Children's Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, University of Melbourne, Melbourne, VIC, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Davis, Ryan L" sort="Davis, Ryan L" uniqKey="Davis R" first="Ryan L" last="Davis">Ryan L. Davis</name><affiliation><nlm:affiliation>Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Teo, Juliana" sort="Teo, Juliana" uniqKey="Teo J" first="Juliana" last="Teo">Juliana Teo</name><affiliation><nlm:affiliation>Department of Haematology, Children's Hospital at Westmead, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Arbuckle, Susan" sort="Arbuckle, Susan" uniqKey="Arbuckle S" first="Susan" last="Arbuckle">Susan Arbuckle</name><affiliation><nlm:affiliation>Department of Pathology, Children's Hospital at Westmead, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Cooper, Sandra T" sort="Cooper, Sandra T" uniqKey="Cooper S" first="Sandra T" last="Cooper">Sandra T. Cooper</name><affiliation><nlm:affiliation>Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Campagna, Dean R" sort="Campagna, Dean R" uniqKey="Campagna D" first="Dean R" last="Campagna">Dean R. Campagna</name><affiliation><nlm:affiliation>Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Frugier, Magali" sort="Frugier, Magali" uniqKey="Frugier M" first="Magali" last="Frugier">Magali Frugier</name><affiliation><nlm:affiliation>Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Markianos, Kyriacos" sort="Markianos, Kyriacos" uniqKey="Markianos K" first="Kyriacos" last="Markianos">Kyriacos Markianos</name><affiliation><nlm:affiliation>Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M" last="Sue">Carolyn M. Sue</name><affiliation><nlm:affiliation>Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Fleming, Mark D" sort="Fleming, Mark D" uniqKey="Fleming M" first="Mark D" last="Fleming">Mark D. Fleming</name><affiliation><nlm:affiliation>Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Christodoulou, John" sort="Christodoulou, John" uniqKey="Christodoulou J" first="John" last="Christodoulou">John Christodoulou</name><affiliation><nlm:affiliation>Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:26537577</idno><idno type="pmid">26537577</idno><idno type="doi">10.1007/8904_2015_515</idno><idno type="wicri:Area/PubMed/Corpus">002528</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002528</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.</title><author><name sortKey="Riley, Lisa G" sort="Riley, Lisa G" uniqKey="Riley L" first="Lisa G" last="Riley">Lisa G. Riley</name><affiliation><nlm:affiliation>Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia. lisa.riley@health.nsw.gov.au.</nlm:affiliation></affiliation></author><author><name sortKey="Rudinger Thirion, Joelle" sort="Rudinger Thirion, Joelle" uniqKey="Rudinger Thirion J" first="Joëlle" last="Rudinger-Thirion">Joëlle Rudinger-Thirion</name><affiliation><nlm:affiliation>Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Schmitz Abe, Klaus" sort="Schmitz Abe, Klaus" uniqKey="Schmitz Abe K" first="Klaus" last="Schmitz-Abe">Klaus Schmitz-Abe</name><affiliation><nlm:affiliation>Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Thorburn, David R" sort="Thorburn, David R" uniqKey="Thorburn D" first="David R" last="Thorburn">David R. Thorburn</name><affiliation><nlm:affiliation>Department of Paediatrics, Murdoch Children's Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, University of Melbourne, Melbourne, VIC, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Davis, Ryan L" sort="Davis, Ryan L" uniqKey="Davis R" first="Ryan L" last="Davis">Ryan L. Davis</name><affiliation><nlm:affiliation>Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Teo, Juliana" sort="Teo, Juliana" uniqKey="Teo J" first="Juliana" last="Teo">Juliana Teo</name><affiliation><nlm:affiliation>Department of Haematology, Children's Hospital at Westmead, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Arbuckle, Susan" sort="Arbuckle, Susan" uniqKey="Arbuckle S" first="Susan" last="Arbuckle">Susan Arbuckle</name><affiliation><nlm:affiliation>Department of Pathology, Children's Hospital at Westmead, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Cooper, Sandra T" sort="Cooper, Sandra T" uniqKey="Cooper S" first="Sandra T" last="Cooper">Sandra T. Cooper</name><affiliation><nlm:affiliation>Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Campagna, Dean R" sort="Campagna, Dean R" uniqKey="Campagna D" first="Dean R" last="Campagna">Dean R. Campagna</name><affiliation><nlm:affiliation>Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Frugier, Magali" sort="Frugier, Magali" uniqKey="Frugier M" first="Magali" last="Frugier">Magali Frugier</name><affiliation><nlm:affiliation>Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Markianos, Kyriacos" sort="Markianos, Kyriacos" uniqKey="Markianos K" first="Kyriacos" last="Markianos">Kyriacos Markianos</name><affiliation><nlm:affiliation>Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M" last="Sue">Carolyn M. Sue</name><affiliation><nlm:affiliation>Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital, Sydney, NSW, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Fleming, Mark D" sort="Fleming, Mark D" uniqKey="Fleming M" first="Mark D" last="Fleming">Mark D. Fleming</name><affiliation><nlm:affiliation>Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Christodoulou, John" sort="Christodoulou, John" uniqKey="Christodoulou J" first="John" last="Christodoulou">John Christodoulou</name><affiliation><nlm:affiliation>Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia.</nlm:affiliation></affiliation></author></analytic><series><title level="j">JIMD reports</title><idno type="ISSN">2192-8304</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Pathogenic variants in mitochondrial aminoacyl-tRNA synthetases result in a broad range of mitochondrial respiratory chain disorders despite their shared role in mitochondrial protein synthesis. LARS2 encodes the mitochondrial leucyl-tRNA synthetase, which attaches leucine to its cognate tRNA. Sequence variants in LARS2 have previously been associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss (OMIM #615300). In this study, we report variants in LARS2 that are associated with a severe multisystem metabolic disorder. The proband was born prematurely with severe lactic acidosis, hydrops, and sideroblastic anemia. She had multisystem complications with hyaline membrane disease, impaired cardiac function, a coagulopathy, pulmonary hypertension, and progressive renal disease and succumbed at 5 days of age. Whole exome sequencing of patient DNA revealed compound heterozygous variants in LARS2 (c.1289C>T; p.Ala430Val and c.1565C>A; p.Thr522Asn). The c.1565C>A (p.Thr522Asn) LARS2 variant has previously been associated with Perrault syndrome and both identified variants are predicted to be damaging (SIFT, PolyPhen). Muscle and liver samples from the proband did not display marked mitochondrial respiratory chain enzyme deficiency. Immunoblotting of patient muscle and liver showed LARS2 levels were reduced in liver and complex I protein levels were reduced in patient muscle and liver. Aminoacylation assays revealed p.Ala430Val LARS2 had an 18-fold loss of catalytic efficiency and p.Thr522Asn a 9-fold loss compared to wild-type LARS2. We suggest that the identified LARS2 variants are responsible for the severe multisystem clinical phenotype seen in this baby and that mutations in LARS2 can result in variable phenotypes.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">26537577</PMID><DateCreated><Year>2015</Year><Month>11</Month><Day>05</Day></DateCreated><DateRevised><Year>2017</Year><Month>08</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">2192-8304</ISSN><JournalIssue CitedMedium="Print"><Volume>28</Volume><PubDate><Year>2016</Year></PubDate></JournalIssue><Title>JIMD reports</Title><ISOAbbreviation>JIMD Rep</ISOAbbreviation></Journal><ArticleTitle>LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.</ArticleTitle><Pagination><MedlinePgn>49-57</MedlinePgn></Pagination><Abstract><AbstractText>Pathogenic variants in mitochondrial aminoacyl-tRNA synthetases result in a broad range of mitochondrial respiratory chain disorders despite their shared role in mitochondrial protein synthesis. LARS2 encodes the mitochondrial leucyl-tRNA synthetase, which attaches leucine to its cognate tRNA. Sequence variants in LARS2 have previously been associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss (OMIM #615300). In this study, we report variants in LARS2 that are associated with a severe multisystem metabolic disorder. The proband was born prematurely with severe lactic acidosis, hydrops, and sideroblastic anemia. She had multisystem complications with hyaline membrane disease, impaired cardiac function, a coagulopathy, pulmonary hypertension, and progressive renal disease and succumbed at 5 days of age. Whole exome sequencing of patient DNA revealed compound heterozygous variants in LARS2 (c.1289C>T; p.Ala430Val and c.1565C>A; p.Thr522Asn). The c.1565C>A (p.Thr522Asn) LARS2 variant has previously been associated with Perrault syndrome and both identified variants are predicted to be damaging (SIFT, PolyPhen). Muscle and liver samples from the proband did not display marked mitochondrial respiratory chain enzyme deficiency. Immunoblotting of patient muscle and liver showed LARS2 levels were reduced in liver and complex I protein levels were reduced in patient muscle and liver. Aminoacylation assays revealed p.Ala430Val LARS2 had an 18-fold loss of catalytic efficiency and p.Thr522Asn a 9-fold loss compared to wild-type LARS2. We suggest that the identified LARS2 variants are responsible for the severe multisystem clinical phenotype seen in this baby and that mutations in LARS2 can result in variable phenotypes.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Riley</LastName><ForeName>Lisa G</ForeName><Initials>LG</Initials><AffiliationInfo><Affiliation>Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia. lisa.riley@health.nsw.gov.au.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. lisa.riley@health.nsw.gov.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rudinger-Thirion</LastName><ForeName>Joëlle</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schmitz-Abe</LastName><ForeName>Klaus</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Broad Institute, Cambridge, MA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thorburn</LastName><ForeName>David R</ForeName><Initials>DR</Initials><AffiliationInfo><Affiliation>Department of Paediatrics, Murdoch Children's Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, University of Melbourne, Melbourne, VIC, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>Ryan L</ForeName><Initials>RL</Initials><AffiliationInfo><Affiliation>Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital, Sydney, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Teo</LastName><ForeName>Juliana</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Haematology, Children's Hospital at Westmead, Sydney, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Arbuckle</LastName><ForeName>Susan</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Pathology, Children's Hospital at Westmead, Sydney, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cooper</LastName><ForeName>Sandra T</ForeName><Initials>ST</Initials><AffiliationInfo><Affiliation>Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Sydney, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Campagna</LastName><ForeName>Dean R</ForeName><Initials>DR</Initials><AffiliationInfo><Affiliation>Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frugier</LastName><ForeName>Magali</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Architecture et Réactivité de l'ARN, Université de Strasbourg, CNRS, IBMC, Strasbourg, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Markianos</LastName><ForeName>Kyriacos</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sue</LastName><ForeName>Carolyn M</ForeName><Initials>CM</Initials><AffiliationInfo><Affiliation>Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital, Sydney, NSW, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fleming</LastName><ForeName>Mark D</ForeName><Initials>MD</Initials><AffiliationInfo><Affiliation>Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Christodoulou</LastName><ForeName>John</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW, 2145, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Discipline of Paediatrics & Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R01 DK087992</GrantID><Acronym>DK</Acronym><Agency>NIDDK NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>11</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>Germany</Country><MedlineTA>JIMD Rep</MedlineTA><NlmUniqueID>101568557</NlmUniqueID><ISSNLinking>2192-8304</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Cell. 2008 Jul 11;134(1):112-23</RefSource><PMID Version="1">18614015</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2013 Apr 4;92(4):614-20</RefSource><PMID Version="1">23541342</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Hum Genet. 2014 Apr;59(4):229-32</RefSource><PMID Version="1">24430573</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2014 Oct 30;124(18):2867-71</RefSource><PMID Version="1">25193871</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2011 May 13;88(5):635-42</RefSource><PMID Version="1">21549344</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Genet Metab. 2013 Apr;108(4):206-11</RefSource><PMID Version="1">23433712</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Methods Mol Biol. 2012;837:49-62</RefSource><PMID Version="1">22215540</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2011 Feb 11;88(2):193-200</RefSource><PMID Version="1">21255763</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Mol Biol. 2003 May 16;328(5):995-1010</RefSource><PMID Version="1">12729737</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2012 Apr 27;287(18):14772-81</RefSource><PMID Version="1">22383526</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Int J Cell Biol. 2014;2014:787956</RefSource><PMID Version="1">24639874</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2013 Feb;136(Pt 2):e228</RefSource><PMID Version="1">23008233</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Reprod. 2006 Oct;21(10):2467-73</RefSource><PMID Version="1">16595552</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Protein Expr Purif. 2003 Jul;30(1):112-6</RefSource><PMID Version="1">12821328</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2012 May;135(Pt 5):1387-94</RefSource><PMID Version="1">22492562</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hematol Oncol Clin North Am. 2014 Aug;28(4):653-70, v</RefSource><PMID Version="1">25064706</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Orphanet J Rare Dis. 2013 Dec 17;8:193</RefSource><PMID Version="1">24344687</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Protein Chem. 2003 Jan;22(1):71-6</RefSource><PMID Version="1">12739900</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 1993 Oct 1;90(19):8763-8</RefSource><PMID Version="1">7692438</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2013 Sep;161A(9):2334-8</RefSource><PMID Version="1">23918765</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2011 Apr 19;108(16):6543-8</RefSource><PMID Version="1">21464306</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Science. 1987 Sep 25;237(4822):1614-8</RefSource><PMID Version="1">3306924</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2014 Jun 10;82(23):2063-71</RefSource><PMID Version="1">24808023</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nature. 1990 Apr 19;344(6268):787-9</RefSource><PMID Version="1">2330033</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Struct Mol Biol. 2012 Jun 10;19(7):677-84</RefSource><PMID Version="1">22683997</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Biochemistry. 2001 May 8;40(18):5376-81</RefSource><PMID Version="1">11331000</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Biochim Biophys Acta. 2014 Apr;1840(4):1368-79</RefSource><PMID Version="1">24380876</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Biochemistry. 2005 Mar 1;44(8):3010-6</RefSource><PMID Version="1">15723544</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Methods Enzymol. 2009;456:321-39</RefSource><PMID Version="1">19348897</PMID></CommentsCorrections></CommentsCorrectionsList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>07</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>10</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>10</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>11</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>11</Month><Day>6</Day><Hour>6</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>11</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26537577</ArticleId><ArticleId IdType="pmc">PMC5059179</ArticleId><ArticleId IdType="doi">10.1007/8904_2015_515</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002528 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 002528 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= PubMed
|étape= Corpus
|type= RBID
|clé= pubmed:26537577
|texte= LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:26537577" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |