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  1. AU="Reza Maroofian"
  2. AU="Chien, Chia-Yu"
  3. AU="Ward, John W" AU="Ward, John W"
  4. AU="Peña-Santiago, Reyes"
  5. AU="Ottens, R S"
  6. AU=Sharma S K AU=Sharma S K
  7. AU="Schuchard, Karl G"
  8. AU="Lawton, Michael T."
  9. AU="Marazuela, Rosario"
  10. AU="Gandini, O"
  11. AU="Mahadevan, L"
  12. AU="Hsiao, Chen-Tsung"
  13. AU=Kyriazopoulou Evdoxia AU=Kyriazopoulou Evdoxia
  14. AU="Kalezić, Tanja"
  15. AU="Ng, Andrew A"
  16. AU="Maeda, Shunta"
  17. AU="Ma, Yongjie"
  18. AU="Fukamizu, Akiyoshi"
  19. AU="Maclean, Ilya M. D."
  20. AU=Alpers Charles E
  21. AU=Lippi Giuseppe
  22. AU="Ricci, Giampietro"
  23. AU="Marshall, Andrew"
  24. AU="Zhen-dong HUA"
  25. AU="John P. Thomas"
  26. AU="Airton Massaro"
  27. AU="Isabelle Hautefort"

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  1. Artikel ; Online: Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy

    Edward G. Jones / Neda Mazaheri / Reza Maroofian / Mina Zamani / Tahereh Seifi / Alireza Sedaghat / Gholamreza Shariati / Yalda Jamshidi / Hugh D. Allen / Xander H. T. Wehrens / Hamid Galehdari / Andrew P. Landstrom

    Scientific Reports, Vol 9, Iss 1, Pp 1-

    2019  Band 10

    Abstract: Abstract Junctophilin-2 (JPH2) is a part of the junctional membrane complex that facilitates calcium-handling in the cardiomyocyte. Previously, missense variants in JPH2 have been linked to hypertrophic cardiomyopathy; however, pathogenic “loss of ... ...

    Abstract Abstract Junctophilin-2 (JPH2) is a part of the junctional membrane complex that facilitates calcium-handling in the cardiomyocyte. Previously, missense variants in JPH2 have been linked to hypertrophic cardiomyopathy; however, pathogenic “loss of function” (LOF) variants have not been described. Family-based genetic analysis of GME individuals with cardiomyopathic disease identified an Iranian patient with dilated cardiomyopathy (DCM) as a carrier of a novel, homozygous single nucleotide insertion in JPH2 resulting in a stop codon (JPH2-p.E641*). A second Iranian family with consanguineous parents hosting an identical heterozygous variant had 2 children die in childhood from cardiac failure. To characterize ethnicity-dependent genetic variability in JPH2 and to identify homozygous JPH2 variants associated with cardiac disease, we identified variants in JPH2 in a worldwide control cohort (gnomAD) and 2 similar cohorts from the Greater Middle East (GME Variome, Iranome). These were compared against ethnicity-matched clinical whole exome sequencing (WES) referral tests and a case cohort of individuals with hypertrophic cardiomyopathy (HCM) based on comprehensive review of the literature. Worldwide, 1.45% of healthy individuals hosted a rare JPH2 variant with a significantly higher proportion among GME individuals (4.45%); LOF variants were rare overall (0.04%) yet were most prevalent in GME (0.21%). The increased prevalence of LOF variants in GME individuals was corroborated among region-specific, clinical WES cohorts. In conclusion, we report ethnic-specific differences in JPH2 rare variants, with GME individuals being at higher risk of hosting homozygous LOF variants. This conclusion is supported by the identification of a novel JPH2 LOF variant confirmed by segregation analysis resulting in autosomal recessive pediatric DCM due to presumptive JPH2 truncation.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2019-06-01T00:00:00Z
    Verlag Nature Publishing Group
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome

    Caroline Lekszas / Indrajit Nanda / Barbara Vona / Julia Böck / Farah Ashrafzadeh / Nahid Donyadideh / Farnoosh Ebrahimzadeh / Najmeh Ahangari / Reza Maroofian / Ehsan Ghayoor Karimiani / Thomas Haaf

    BMC Medical Genomics, Vol 12, Iss 1, Pp 1-

    a case report

    2019  Band 7

    Abstract: Abstract Background The vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5. The underlying mechanisms include epimutations, uniparental disomy, copy number variations, ...

    Abstract Abstract Background The vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5. The underlying mechanisms include epimutations, uniparental disomy, copy number variations, and structural rearrangements. In addition, maternal loss-of-function mutations in CDKN1C are found. Despite growing knowledge on BWS pathogenesis, up to 20% of patients with BWS phenotype remain without molecular diagnosis. Case presentation Herein, we report an Iranian family with two females affected with BWS in different generations. Bisulfite pyrosequencing revealed hypermethylation of the H19/IGF2: intergenic differentially methylated region (IG DMR), also known as imprinting center 1 (IC1) and hypomethylation of the KCNQ1OT1: transcriptional start site (TSS) DMR (IC2). Array CGH demonstrated an 8 Mb duplication on chromosome 11p15.5p15.4 (205,827-8,150,933) and a 1 Mb deletion on chromosome 9p24.3 (209,020-1,288,114). Chromosome painting revealed that this duplication-deficiency in both patients is due to unbalanced segregation of a paternal reciprocal t(9;11)(p24.3;p15.4) translocation. Conclusions This is the first report of a paternally inherited unbalanced translocation between the chromosome 9 and 11 short arms underlying familial BWS. Copy number variations involving the 11p15.5 region are detected by the consensus diagnostic algorithm. However, in complex cases which do not only affect the BWS region itself, characterization of submicroscopic chromosome rearrangements can assist to estimate the recurrence risk and possible phenotypic outcomes.
    Schlagwörter Familial Beckwith-Wiedemann syndrome ; Copy number variation ; Duplication-deficiency ; Genomic imprinting ; Submicroscopic chromosome rearrangement ; Reciprocal translocation ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
    Sprache Englisch
    Erscheinungsdatum 2019-06-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing

    Michaela A. H. Hofrichter / Majid Mojarad / Julia Doll / Clemens Grimm / Atiye Eslahi / Neda Sadat Hosseini / Mohsen Rajati / Tobias Müller / Marcus Dittrich / Reza Maroofian / Thomas Haaf / Barbara Vona

    BMC Medical Genetics, Vol 19, Iss 1, Pp 1-

    evidence from a consanguineous Iranian family

    2018  Band 10

    Abstract: Abstract Background Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the ... ...

    Abstract Abstract Background Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked to autosomal recessive hearing loss (DFNB68) in two Pakistani families. We describe a segregating novel homozygous c.323G>A, p.Arg108Gln pathogenic variant in S1PR2 that was identified in four affected individuals from a consanguineous five generation Iranian family. Methods Whole exome sequencing and bioinformatics analysis of 116 hearing loss-associated genes was performed in an affected individual from a five generation Iranian family. Segregation analysis and 3D protein modeling of the p.Arg108 exchange was performed. Results The two Pakistani families previously identified with S1PR2 pathogenic variants presented profound hearing loss that is also observed in the affected Iranian individuals described in the current study. Interestingly, we confirmed mixed hearing loss in one affected individual. 3D protein modeling suggests that the p.Arg108 position plays a key role in ligand receptor interaction, which is disturbed by the p.Arg108Gln change. Conclusion In summary, we report the third overall mutation in S1PR2 and the first report outside the Pakistani population. Furthermore, we describe a novel variant that causes an amino acid exchange (p.Arg108Gln) in the same amino acid residue as one of the previously reported Pakistani families (p.Arg108Pro). This finding emphasizes the importance of the p.Arg108 amino acid in normal hearing and confirms and consolidates the role of S1PR2 in autosomal recessive hearing loss.
    Schlagwörter 3D modeling ; Autosomal recessive non-syndromic hearing loss ; DFNB68 ; Mixed hearing loss ; S1PR2 ; Whole exome sequencing ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
    Thema/Rubrik (Code) 390
    Sprache Englisch
    Erscheinungsdatum 2018-05-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

    Sheng-Jia Lin / Barbara Vona / Tracy Lau / Kevin Huang / Maha S. Zaki / Huda Shujaa Aldeen / Ehsan Ghayoor Karimiani / Clarissa Rocca / Mahmoud M. Noureldeen / Ahmed K. Saad / Cassidy Petree / Tobias Bartolomaeus / Rami Abou Jamra / Giovanni Zifarelli / Aditi Gotkhindikar / Ingrid M. Wentzensen / Mingjuan Liao / Emalyn Elise Cork / Pratishtha Varshney /
    Narges Hashemi / Mohammad Hasan Mohammadi / Aboulfazl Rad / Juanita Neira / Mehran Beiraghi Toosi / Cordula Knopp / Ingo Kurth / Thomas D. Challman / Rebecca Smith / Asmahan Abdalla / Thomas Haaf / Mohnish Suri / Manali Joshi / Wendy K. Chung / Andres Moreno-De-Luca / Henry Houlden / Reza Maroofian / Gaurav K. Varshney

    Genome Medicine, Vol 15, Iss 1, Pp 1-

    2023  Band 24

    Abstract: Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains ... ...

    Abstract Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association remains to be confirmed. A second OGDHL patient cohort was recruited to carefully assess the gene-disease relationship. Methods Using an unbiased genotype-first approach, we screened large, multiethnic aggregated sequencing datasets worldwide for biallelic OGDHL variants. We used CRISPR/Cas9 to generate zebrafish knockouts of ogdhl, ogdh paralogs, and dhtkd1 to investigate functional relationships and impact during development. Functional complementation with patient variant transcripts was conducted to systematically assess protein functionality as a readout for pathogenicity. Results A cohort of 14 individuals from 12 unrelated families exhibited highly variable clinical phenotypes, with the majority of them presenting at least one additional variant, potentially accounting for a blended phenotype and complicating phenotypic understanding. We also uncovered extreme clinical heterogeneity and high allele frequencies, occasionally incompatible with a fully penetrant recessive disorder. Human cDNA of previously described and new variants were tested in an ogdhl zebrafish knockout model, adding functional evidence for variant reclassification. We disclosed evidence of hypomorphic alleles as well as a loss-of-function variant without deleterious effects in zebrafish variant testing also showing discordant familial segregation, challenging the relationship of OGDHL as a conventional Mendelian gene. Going further, we uncovered evidence for a complex compensatory relationship among OGDH, OGDHL, and DHTKD1 isoenzymes that are associated with neurodevelopmental disorders and exhibit complex transcriptional compensation patterns with partial functional redundancy. Conclusions Based on the results of genetic, clinical, and functional studies, we formed three hypotheses in which to ...
    Schlagwörter 2-oxo acid dehydrogenase ; OGDHL ; Genetic compensation ; Disease model ; Zebrafish ; Neurodevelopmental disorders ; Medicine ; R ; Genetics ; QH426-470
    Thema/Rubrik (Code) 572
    Sprache Englisch
    Erscheinungsdatum 2023-11-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; Online: A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1

    Masoud DEHGHAN TEZERJANI / Reza MAROOFIAN / Mohammad Yahya VAHIDI MEHRJARDI / Barry A. CHIOZA / Shiva ZAMANINEJAD / Seyed Mehdi KALANTAR / Mahmoud NORI-SHADKAM / Hamidreza GHADIMI / Emma L. BAPLE / Andrew H. CROSBY / Mohammadreza DEHGHANI

    Iranian Journal of Public Health, Vol 45, Iss 10, Pp 1359-

    A Case Report

    2016  Band 1366

    Abstract: Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental ... ...

    Abstract Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far. Type 1 which is now considered to be a ciliopathy accounts for the majority of cases. It is transmitted in an X-linked dominant pattern and caused by mutations in OFD1 gene, which can result in embryonic male lethality. In this study, we present a family suffering from orofaciodigital syndrome type I who referred to Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences in 2015. Two female siblings and their mother shared a novel 2-base pair deletion (c.1964-1965delGA) in exon 16 of OFD1 gene. Clinically, the sibling had oral, facial and brain abnormalities, whereas their mother is very mildly affected. She also had history of recurrent miscarriage of male fetus.
    Schlagwörter OFD1 ; Oral-facial-digital syndrome ; X-linked dominant ; Miscarriage ; Ciliopathy ; Public aspects of medicine ; RA1-1270
    Sprache Englisch
    Erscheinungsdatum 2016-10-01T00:00:00Z
    Verlag Tehran University of Medical Sciences
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel ; Online: Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

    Carolina Gracia-Diaz / Yijing Zhou / Qian Yang / Reza Maroofian / Paula Espana-Bonilla / Chul-Hwan Lee / Shuo Zhang / Natàlia Padilla / Raquel Fueyo / Elisa A. Waxman / Sunyimeng Lei / Garrett Otrimski / Dong Li / Sarah E. Sheppard / Paul Mark / Margaret H. Harr / Hakon Hakonarson / Lance Rodan / Adam Jackson /
    Pradeep Vasudevan / Corrina Powel / Shehla Mohammed / Sateesh Maddirevula / Hamad Alzaidan / Eissa A. Faqeih / Stephanie Efthymiou / Valentina Turchetti / Fatima Rahman / Shazia Maqbool / Vincenzo Salpietro / Shahnaz H. Ibrahim / Gabriella di Rosa / Henry Houlden / Maha Nasser Alharbi / Nouriya Abbas Al-Sannaa / Peter Bauer / Giovanni Zifarelli / Conchi Estaras / Anna C. E. Hurst / Michelle L. Thompson / Anna Chassevent / Constance L. Smith-Hicks / Xavier de la Cruz / Alexander M. Holtz / Houda Zghal Elloumi / M J Hajianpour / Claudine Rieubland / Dominique Braun / Siddharth Banka / Genomic England Research Consortium / Deborah L. French / Elizabeth A. Heller / Murielle Saade / Hongjun Song / Guo-li Ming / Fowzan S. Alkuraya / Pankaj B. Agrawal / Danny Reinberg / Elizabeth J. Bhoj / Marian A. Martínez-Balbás / Naiara Akizu

    Nature Communications, Vol 14, Iss 1, Pp 1-

    2023  Band 18

    Abstract: Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 ...

    Abstract Abstract Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders.
    Schlagwörter Science ; Q
    Thema/Rubrik (Code) 571
    Sprache Englisch
    Erscheinungsdatum 2023-07-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  7. Artikel ; Online: Author Correction

    Paige B. Martin / Yu Kigoshi-Tansho / Roger B. Sher / Gianina Ravenscroft / Jennifer E. Stauffer / Rajesh Kumar / Ryo Yonashiro / Tina Müller / Christopher Griffith / William Allen / Davut Pehlivan / Tamar Harel / Martin Zenker / Denise Howting / Denny Schanze / Eissa A. Faqeih / Naif A. M. Almontashiri / Reza Maroofian / Henry Houlden /
    Neda Mazaheri / Hamid Galehdari / Ganka Douglas / Jennifer E. Posey / Monique Ryan / James R. Lupski / Nigel G. Laing / Claudio A. P. Joazeiro / Gregory A. Cox

    Nature Communications, Vol 11, Iss 1, Pp 1-

    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

    2020  Band 1

    Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    Abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2020-10-01T00:00:00Z
    Verlag Nature Publishing Group
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    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  8. Artikel ; Online: KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek / Islam Oguz Tuncay / Nadine Nijem / Jamie Russell / Sara Ludwig / Kiran Kaur / Xiaohong Li / Priscilla Anderton / Miao Tang / Amanda Gerard / Anja Heinze / Pia Zacher / Hessa S Alsaif / Aboulfazl Rad / Kazem Hassanpour / Mohammad Reza Abbaszadegan / Camerun Washington / Barbara R DuPont / Raymond J Louie /
    CAUSES Study / Madeline Couse / Maha Faden / R Curtis Rogers / Rami Abou Jamra / Ellen R Elias / Reza Maroofian / Henry Houlden / Anna Lehman / Bruce Beutler / Maria H Chahrour

    eLife, Vol

    2020  Band 9

    Abstract: Autism spectrum disorder (ASD) is a constellation of neurodevelopmental disorders with high phenotypic and genetic heterogeneity, complicating the discovery of causative genes. Through a forward genetics approach selecting for defective vocalization in ... ...

    Abstract Autism spectrum disorder (ASD) is a constellation of neurodevelopmental disorders with high phenotypic and genetic heterogeneity, complicating the discovery of causative genes. Through a forward genetics approach selecting for defective vocalization in mice, we identified Kdm5a as a candidate ASD gene. To validate our discovery, we generated a Kdm5a knockout mouse model (Kdm5a-/-) and confirmed that inactivating Kdm5a disrupts vocalization. In addition, Kdm5a-/- mice displayed repetitive behaviors, sociability deficits, cognitive dysfunction, and abnormal dendritic morphogenesis. Loss of KDM5A also resulted in dysregulation of the hippocampal transcriptome. To determine if KDM5A mutations cause ASD in humans, we screened whole exome sequencing and microarray data from a clinical cohort. We identified pathogenic KDM5A variants in nine patients with ASD and lack of speech. Our findings illustrate the power and efficacy of forward genetics in identifying ASD genes and highlight the importance of KDM5A in normal brain development and function.
    Schlagwörter autism spectrum disorder ; forward genetics ; chromatin regulator ; vocalization ; histone demethylase ; Medicine ; R ; Science ; Q ; Biology (General) ; QH301-705.5
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2020-12-01T00:00:00Z
    Verlag eLife Sciences Publications Ltd
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  9. Artikel ; Online: Author Correction

    Paige B. Martin / Yu Kigoshi-Tansho / Roger B. Sher / Gianina Ravenscroft / Jennifer E. Stauffer / Rajesh Kumar / Ryo Yonashiro / Tina Müller / Christopher Griffith / William Allen / Davut Pehlivan / Tamar Harel / Martin Zenker / Denise Howting / Denny Schanze / Eissa A. Faqeih / Naif A. M. Almontashiri / Reza Maroofian / Henry Houlden /
    Neda Mazaheri / Hamid Galehdari / Ganka Douglas / Jennifer E. Posey / Monique Ryan / James R. Lupski / Nigel G. Laing / Claudio A. P. Joazeiro / Gregory A. Cox

    Nature Communications, Vol 11, Iss 1, Pp 1-

    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

    2020  Band 1

    Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    Abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2020-10-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  10. Artikel ; Online: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

    Paige B. Martin / Yu Kigoshi-Tansho / Roger B. Sher / Gianina Ravenscroft / Jennifer E. Stauffer / Rajesh Kumar / Ryo Yonashiro / Tina Müller / Christopher Griffith / William Allen / Davut Pehlivan / Tamar Harel / Martin Zenker / Denise Howting / Denny Schanze / Eissa A. Faqeih / Naif A. M. Almontashiri / Reza Maroofian / Henry Houlden /
    Neda Mazaheri / Hamid Galehdari / Ganka Douglas / Jennifer E. Posey / Monique Ryan / James R. Lupski / Nigel G. Laing / Claudio A. P. Joazeiro / Gregory A. Cox

    Nature Communications, Vol 11, Iss 1, Pp 1-

    2020  Band 12

    Abstract: Defective protein quality control is a key feature of neurodegeneration. Here, the authors show that mutations in Nemf/NEMF, a component of the Ribosome-associated Quality Control complex, have a neurodegenerative effect in mice and may underlie ... ...

    Abstract Defective protein quality control is a key feature of neurodegeneration. Here, the authors show that mutations in Nemf/NEMF, a component of the Ribosome-associated Quality Control complex, have a neurodegenerative effect in mice and may underlie neuromuscular disease in seven unrelated families.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2020-09-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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