Literature DB >> 28615675

A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Josef Finsterer1, Sinda Zarrouk-Mahjoub2.   

Abstract

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Year:  2017        PMID： 28615675     DOI： 10.1038/jhg.2017.64

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  12 in total

1.  A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

Authors:  Aleix Navarro-Sastre; Frederic Tort; Oliver Stehling; Marta A Uzarska; José Antonio Arranz; Mireia Del Toro; M Teresa Labayru; Joseba Landa; Aida Font; Judit Garcia-Villoria; Begoña Merinero; Magdalena Ugarte; Luis Gonzalez Gutierrez-Solana; Jaume Campistol; Angels Garcia-Cazorla; Julian Vaquerizo; Encarnació Riudor; Paz Briones; Orly Elpeleg; Antonia Ribes; Roland Lill
Journal:  Am J Hum Genet       Date:  2011-11-11       Impact factor: 11.025

2.  A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.

Authors:  A Seyda; R F Newbold; T J Hudson; A Verner; N MacKay; S Winter; A Feigenbaum; S Malaney; D Gonzalez-Halphen; A P Cuthbert; B H Robinson
Journal:  Am J Hum Genet       Date:  2001-01-10       Impact factor: 11.025

3.  Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

Authors:  François-Guillaume Debray; Claudia Stümpfig; Arnaud V Vanlander; Vinciane Dideberg; Claire Josse; Jean-Hubert Caberg; François Boemer; Vincent Bours; René Stevens; Sara Seneca; Joél Smet; Roland Lill; Rudy van Coster
Journal:  J Inherit Metab Dis       Date:  2015-05-14       Impact factor: 4.982

4.  POLG1 mutations associated with progressive encephalopathy in childhood.

Authors:  Gittan Kollberg; Ali-Reza Moslemi; Niklas Darin; Inger Nennesmo; Ingibjörg Bjarnadottir; Paul Uvebrant; Elisabeth Holme; Atle Melberg; Már Tulinius; Anders Oldfors
Journal:  J Neuropathol Exp Neurol       Date:  2006-08       Impact factor: 3.685

5.  Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Authors:  Peter R Baker; Marisa W Friederich; Michael A Swanson; Tamim Shaikh; Kaustuv Bhattacharya; Gunter H Scharer; Joseph Aicher; Geralyn Creadon-Swindell; Elizabeth Geiger; Kenneth N MacLean; Wang-Tso Lee; Charu Deshpande; Mary-Louise Freckmann; Ling-Yu Shih; Melissa Wasserstein; Malene B Rasmussen; Allan M Lund; Peter Procopis; Jessie M Cameron; Brian H Robinson; Garry K Brown; Ruth M Brown; Alison G Compton; Carol L Dieckmann; Renata Collard; Curtis R Coughlin; Elaine Spector; Michael F Wempe; Johan L K Van Hove
Journal:  Brain       Date:  2013-12-11       Impact factor: 13.501

6.  ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

Authors:  Zuhair N Al-Hassnan; Mazhor Al-Dosary; Majid Alfadhel; Eissa A Faqeih; Maysoon Alsagob; Rosan Kenana; Rawan Almass; Olfat S Al-Harazi; Hindi Al-Hindi; Omhani I Malibari; Faten B Almutari; Sahar Tulbah; Faten Alhadeq; Tarfa Al-Sheddi; Rana Alamro; Ali AlAsmari; Makki Almuntashri; Hesham Alshaalan; Futwan A Al-Mohanna; Dilek Colak; Namik Kaya
Journal:  J Med Genet       Date:  2014-12-24       Impact factor: 6.318

7.  Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.

Authors:  Mathilde Nizon; Audrey Boutron; Nathalie Boddaert; Abdelhamid Slama; Hélène Delpech; Claude Sardet; Anaïs Brassier; Florence Habarou; Agnès Delahodde; Isabelle Correia; Chris Ottolenghi; Pascale de Lonlay
Journal:  Mitochondrion       Date:  2014-01-22       Impact factor: 4.160

8.  Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Authors:  Alessandra Torraco; Anna Ardissone; Federica Invernizzi; Teresa Rizza; Giuseppe Fiermonte; Marcello Niceta; Nadia Zanetti; Diego Martinelli; Angelo Vozza; Daniela Verrigni; Michela Di Nottia; Eleonora Lamantea; Daria Diodato; Marco Tartaglia; Carlo Dionisi-Vici; Isabella Moroni; Laura Farina; Enrico Bertini; Daniele Ghezzi; Rosalba Carrozzo
Journal:  J Neurol       Date:  2016-10-26       Impact factor: 4.849

9.  Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

Authors:  Federica Invernizzi; Anna Ardissone; Eleonora Lamantea; Barbara Garavaglia; Massimo Zeviani; Laura Farina; Daniele Ghezzi; Isabella Moroni
Journal:  Front Genet       Date:  2014-11-20       Impact factor: 4.599

10.  Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Authors:  Anju Shukla; Malavika Hebbar; Anshika Srivastava; Rajagopal Kadavigere; Priyanka Upadhyai; Anil Kanthi; Oliver Brandau; Stephanie Bielas; Katta M Girisha
Journal:  J Hum Genet       Date:  2017-03-30       Impact factor: 3.172
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  2 in total

1.  A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Authors:  Anju Shukla; Malavika Hebbar; Katta M Girisha
Journal:  J Hum Genet       Date:  2017-06-15       Impact factor: 3.172

2.  Novel rat model of multiple mitochondrial dysfunction syndromes (MMDS) complicated with cardiomyopathy.

Authors:  Yahao Ling; Jiaxin Ma; Xiaolong Qi; Xu Zhang; Qi Kong; Feifei Guan; Wei Dong; Wei Chen; Shan Gao; Xiang Gao; Shuo Pan; Yuanwu Ma; Dan Lu; Lianfeng Zhang
Journal:  Animal Model Exp Med       Date:  2021-12-06
  2 in total

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