Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.725
Abstract: Mitochondrial methionyl‐tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. Pathogenic variants in MTFMT have been associated with Leigh syndrome (LS) and mitochondrial multiple respiratory chain deficiencies. We… read more here.
Keywords: leigh syndrome; syndrome caused; mutations mtfmt; mtfmt associated ... See more keywords
Hereditary Retinal Dystrophy.
Sign Up to like & getrecommendations! Published in 2017 at "Handbook of experimental pharmacology"
DOI: 10.1007/164_2016_91
Abstract: As our understanding of the genetic basis for inherited retinal disease has expanded, gene therapy has advanced into clinical development. When the gene mutations associated with inherited retinal dystrophies were identified, it became possible to… read more here.
Keywords: hereditary retinal; clinical development; disease; gene ... See more keywords
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14108
Abstract: Retinol dehydrogenase 11 (RDH11) is an 11‐cis‐retinol dehydrogenase that has a well‐characterized, albeit auxiliary role in the retinoid cycle. Diseases caused by mutations in the RDH11 gene are very rare, and only one affected family… read more here.
Keywords: phenotype syndromic; retinol dehydrogenase; retinitis pigmentosa; caused mutations ... See more keywords
tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase
Sign Up to like & getrecommendations! Published in 2021 at "Science"
DOI: 10.1126/science.abb3356
Abstract: Description Defeating peripheral neuropathy The mechanisms underlying peripheral neuropathies are not well understood. Spaulding et al. studied mouse models of the inherited Charcot-Marie-Tooth (CMT) disease, which is caused by mutations in transfer RNA (tRNA) synthetases.… read more here.
Keywords: overexpression; peripheral neuropathy; trna synthetase; trna ... See more keywords
Functional divergence caused by mutations in an energetic hotspot in ERK2
Sign Up to like & getrecommendations! Published in 2019 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.2210/pdb6ots/pdb
Abstract: The most frequent extracellular signal-regulated kinase 2 (ERK2) mutation occurring in cancers is E322K (E-K). ERK2 E-K reverses a buried charge in the ERK2 common docking (CD) site, a region that binds activators, inhibitors, and… read more here.
Keywords: functional divergence; site; divergence caused; erk2 ... See more keywords