Literature DB >> 27912046

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Kyle Thompson, Homa Majd, Cristina Dallabona, Karit Reinson, Martin S King, Charlotte L Alston, Langping He, Tiziana Lodi, Simon A Jones, Aviva Fattal-Valevski, Nitay D Fraenkel, Ann Saada, Alon Haham, Pirjo Isohanni, Roshni Vara, Inês A Barbosa, Michael A Simpson, Charu Deshpande, Sanna Puusepp, Penelope E Bonnen, Richard J Rodenburg, Anu Suomalainen, Katrin Õunap, Orly Elpeleg, Ileana Ferrero, Robert McFarland, Edmund R S Kunji, Robert W Taylor.   

Abstract

Entities:  

Year:  2016        PMID： 27912046      PMCID： PMC5142113          DOI： 10.1016/j.ajhg.2016.11.001

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
(The American Journal of Human Genetics 99, 860–876; October 6, 2016) In the originally published version of this article, Cristina Dallabona’s first name was unfortunately misspelled. It appears correctly here and online. The authors regret the error.
  10 in total

1.  Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.

Authors:  Doris G Leung; Julie S Cohen; Elizabeth Harlan Michelle; Renkui Bai; Andrew L Mammen; Lisa Christopher-Stine
Journal:  J Clin Neuromuscul Dis       Date:  2018-03

Review 2.  Consequences of inner mitochondrial membrane protein misfolding.

Authors:  Liam P Coyne; Xin Jie Chen
Journal:  Mitochondrion       Date:  2019-06-10       Impact factor: 4.160

3.  De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

Authors:  Karin Writzl; Ales Maver; Lidija Kovačič; Paula Martinez-Valero; Laura Contreras; Jorgina Satrustegui; Marco Castori; Laurence Faivre; Pablo Lapunzina; André B P van Kuilenburg; Slobodanka Radović; Christel Thauvin-Robinet; Borut Peterlin; Araceli Del Arco; Raoul C Hennekam
Journal:  Am J Hum Genet       Date:  2017-11-02       Impact factor: 11.025

4.  An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Authors:  Ana Pop; Monique Williams; Eduard A Struys; Magnus Monné; Erwin E W Jansen; Anna De Grassi; Warsha A Kanhai; Pasquale Scarcia; Matilde R Fernandez Ojeda; Vito Porcelli; Silvy J M van Dooren; Pascal Lennertz; Benjamin Nota; Jose E Abdenur; David Coman; Anibh Martin Das; Areeg El-Gharbawy; Jean-Marc Nuoffer; Branka Polic; René Santer; Natalie Weinhold; Britton Zuccarelli; Ferdinando Palmieri; Luigi Palmieri; Gajja S Salomons
Journal:  J Inherit Metab Dis       Date:  2017-12-13       Impact factor: 4.982

5.  Cardiomyopathy-associated mutation in the ADP/ATP carrier reveals translation-dependent regulation of cytochrome c oxidase activity.

Authors:  Oluwaseun B Ogunbona; Matthew G Baile; Steven M Claypool
Journal:  Mol Biol Cell       Date:  2018-04-24       Impact factor: 4.138

6.  Investigating the Broad Matrix-Gate Network in the Mitochondrial ADP/ATP Carrier through Molecular Dynamics Simulations.

Authors:  Shihao Yao; Boyuan Ma; Qiuzi Yi; Min-Xin Guan; Xiaohui Cang
Journal:  Molecules       Date:  2022-02-05       Impact factor: 4.411

7.  Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.

Authors:  Kelsey A Nolden; John M Egner; Jack J Collier; Oliver M Russell; Charlotte L Alston; Megan C Harwig; Michael E Widlansky; Souphatta Sasorith; Inês A Barbosa; Andrew Gl Douglas; Julia Baptista; Mark Walker; Deirdre E Donnelly; Andrew A Morris; Hui Jeen Tan; Manju A Kurian; Kathleen Gorman; Santosh Mordekar; Charu Deshpande; Rajib Samanta; Robert McFarland; R Blake Hill; Robert W Taylor; Monika Oláhová
Journal:  Life Sci Alliance       Date:  2022-08-01

8.  Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.

Authors:  Ruth I C Glasgow; Kyle Thompson; Inês A Barbosa; Langping He; Charlotte L Alston; Charu Deshpande; Michael A Simpson; Andrew A M Morris; Axel Neu; Ulrike Löbel; Julie Hall; Holger Prokisch; Tobias B Haack; Maja Hempel; Robert McFarland; Robert W Taylor
Journal:  Neurogenetics       Date:  2017-10-26       Impact factor: 2.660

Review 9.  Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.

Authors:  Alexandru Ionut Gilea; Camilla Ceccatelli Berti; Martina Magistrati; Giulia di Punzio; Paola Goffrini; Enrico Baruffini; Cristina Dallabona
Journal:  Genes (Basel)       Date:  2021-11-24       Impact factor: 4.096

Review 10.  Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?

Authors:  Xilma R Ortiz-González
Journal:  Dev Neurosci       Date:  2021-08-03       Impact factor: 3.421
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.