Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

LonP1 is crucial for maintaining mitochondrial proteostasis and mitigating cell stress. We identified a novel homozygous missense LONP1 variant, c.2282 C > T, (p.Pro761Leu), by whole-exome and Sanger sequencing in two siblings born to healthy consanguineous parents. Both siblings presented with s...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Nimmo, Graeme A M, Venkatesh, Sundararajan, Pandey, Ashutosh K, Marshall, Christian R, Hazrati, Lili-Naz, Blaser, Susan, Ahmed, Sohnee, Cameron, Jessie, Singh, Kamalendra, Ray, Peter N, Suzuki, Carolyn K, Yoon, Grace
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2019
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General Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6322071/
https://ncbi.nlm.nih.gov/pubmed/30304514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy351
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