Tag : Missense

Neurology

A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

Newsemia
Apoptosis-Inducing Factor Mitochondria-associated-1 gene (AIFM1) encodes a mitochondrial flavin adenine dinucleotide-dependent nicotinamide oxidoreductase, which has a biological role in oxidative phosphorylation (OXPHOS) and in apoptosis...
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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Newsemia
Holt, RJ; Young, RM; Crespo, B; Ceroni, F; Curry, CJ; Bellacchio, E; Bax, DA; … Ragge, NK; + view all Holt, RJ; Young, RM; Crespo,...
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Newsemia
Helbig, I; Lopez-Hernandez, T; Shor, O; Galer, P; Ganesan, S; Pendziwiat, M; Rademacher, A; … GRIN Consortium, ; + view all Helbig, I; Lopez-Hernandez, T;...
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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

Newsemia
de Majo, M; Topp, SD; Smith, BN; Nishimura, AL; Chen, H-J; Gkazi, AS; Miller, J; … Shaw, CE; + view all de Majo, M; Topp,...
Pharma / Biotech

A Pore-Localizing CACNA1C-E1115K Missense Mutation, Identified in a Patient with Idiopathic QT Prolongation, Bradycardia, and Autism Spectrum Disorder, Converts the L-type Calcium Channel into a Hybrid Non-Selective Monovalent Cation Channel.

Newsemia
Related Articles A Pore-Localizing CACNA1C-E1115K Missense Mutation, Identified in a Patient with Idiopathic QT Prolongation, Bradycardia, and Autism Spectrum Disorder, Converts the L-type Calcium Channel...

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