Literature DB >> 33816684

Dystonia and Hereditary Motor Sensory Neuropathy 6B Due to SLC25A46 Gene Mutations.

Srinivas Raju1,2,3, Soumya Medarametla1, Nataraju Boraiah1.   

Abstract

Entities:  

Keywords:  HMSN 6B; SLC25A46; ataxia; dystonia; optic atrophy; torticollis

Year:  2021        PMID： 33816684      PMCID： PMC8015911          DOI： 10.1002/mdc3.13139

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  7 in total

1.  A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.

Authors:  R A Sulaiman; N Patel; H Alsharif; S T Arold; F S Alkuraya
Journal:  Clin Genet       Date:  2017-03-30       Impact factor: 4.438

2.  SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.

Authors:  Gavin Charlesworth; Bettina Balint; Niccolò E Mencacci; Lucinda Carr; Nicholas W Wood; Kailash P Bhatia
Journal:  Mov Disord       Date:  2016-07-19       Impact factor: 10.338

3.  Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Authors:  M C Braunisch; H Gallwitz; A Abicht; I Diebold; E Holinski-Feder; L Van Maldergem; M Lammens; R Kovács-Nagy; B Alhaddad; T M Strom; T Meitinger; J Senderek; S Rudnik-Schöneborn; T B Haack
Journal:  Clin Genet       Date:  2017-11-08       Impact factor: 4.438

4.  Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.

Authors:  M Nguyen; I Boesten; D M E I Hellebrekers; N M Mulder-den Hartog; I F M de Coo; H J M Smeets; M Gerards
Journal:  Clin Genet       Date:  2016-04-08       Impact factor: 4.438

5.  Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Authors:  Jijun Wan; Janos Steffen; Michael Yourshaw; Hafsa Mamsa; Erik Andersen; Sabine Rudnik-Schöneborn; Kate Pope; Katherine B Howell; Catriona A McLean; Andrew J Kornberg; Jörg Joseph; Paul J Lockhart; Klaus Zerres; Monique M Ryan; Stanley F Nelson; Carla M Koehler; Joanna C Jen
Journal:  Brain       Date:  2016-11-01       Impact factor: 13.501

6.  Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Authors:  Alexander J Abrams; Robert B Hufnagel; Adriana Rebelo; Claudia Zanna; Neville Patel; Michael A Gonzalez; Ion J Campeanu; Laurie B Griffin; Saskia Groenewald; Alleene V Strickland; Feifei Tao; Fiorella Speziani; Lisa Abreu; Rebecca Schüle; Leonardo Caporali; Chiara La Morgia; Alessandra Maresca; Rocco Liguori; Raffaele Lodi; Zubair M Ahmed; Kristen L Sund; Xinjian Wang; Laura A Krueger; Yanyan Peng; Carlos E Prada; Cynthia A Prows; Elizabeth K Schorry; Anthony Antonellis; Holly H Zimmerman; Omar A Abdul-Rahman; Yaping Yang; Susan M Downes; Jeffery Prince; Flavia Fontanesi; Antonio Barrientos; Andrea H Németh; Valerio Carelli; Taosheng Huang; Stephan Zuchner; Julia E Dallman
Journal:  Nat Genet       Date:  2015-07-13       Impact factor: 38.330

7.  SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.

Authors:  Alexandre Janer; Julien Prudent; Vincent Paupe; Somayyeh Fahiminiya; Jacek Majewski; Nicolas Sgarioto; Christine Des Rosiers; Anik Forest; Zhen-Yuan Lin; Anne-Claude Gingras; Grant Mitchell; Heidi M McBride; Eric A Shoubridge
Journal:  EMBO Mol Med       Date:  2016-09-01       Impact factor: 12.137
  7 in total
  1 in total

Review 1.  Movement disorders and neuropathies: overlaps and mimics in clinical practice.

Authors:  Francesco Gentile; Alessandro Bertini; Alberto Priori; Tommaso Bocci
Journal:  J Neurol       Date:  2022-06-03       Impact factor: 6.682
  1 in total

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