Literature DB >> 28369803

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

R A Sulaiman1, N Patel2, H Alsharif2, S T Arold3, F S Alkuraya2,4.   

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Year:  2017        PMID： 28369803     DOI： 10.1111/cge.12963

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

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

Authors:  Srinivas Raju; Soumya Medarametla; Nataraju Boraiah
Journal:  Mov Disord Clin Pract       Date:  2021-01-29

Review 2.  Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Authors:  Ferdinando Palmieri; Pasquale Scarcia; Magnus Monné
Journal:  Biomolecules       Date:  2020-04-23

Review 3.  An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Authors:  Federica Marra; Paola Lunetti; Rosita Curcio; Francesco Massimo Lasorsa; Loredana Capobianco; Vito Porcelli; Vincenza Dolce; Giuseppe Fiermonte; Pasquale Scarcia
Journal:  Biomolecules       Date:  2021-11-04

4.  Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.

Authors:  Elena Buglo; Evan Sarmiento; Nicole Belliard Martuscelli; David W Sant; Matt C Danzi; Alexander J Abrams; Julia E Dallman; Stephan Züchner
Journal:  PLoS One       Date:  2020-03-24       Impact factor: 3.240

Review 5.  Drosophila melanogaster Mitochondrial Carriers: Similarities and Differences with the Human Carriers.

Authors:  Rosita Curcio; Paola Lunetti; Vincenzo Zara; Alessandra Ferramosca; Federica Marra; Giuseppe Fiermonte; Anna Rita Cappello; Francesco De Leonardis; Loredana Capobianco; Vincenza Dolce
Journal:  Int J Mol Sci       Date:  2020-08-22       Impact factor: 5.923
  5 in total

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