Associated Papers
Hematopoietic stem cell transplantation leads to biochemical and functional correction in two mouse models of acid ceramidase deficiency.
Rybova J et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency.
Nagree MS et al.
Communications Biology, 2023
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH et al.
Human Mutation, 2020
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS et al.
Orphanet Journal of Rare Diseases, 2018
Structural basis for the activation of acid ceramidase.
Gebai A et al.
Nature Communications, 2018
Deletion of MCP-1 Impedes Pathogenesis of Acid Ceramidase Deficiency.
Yu FPS et al.
Scientific Reports, 2018
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases.
Conconi D et al.
Molecular Cytogenetics, 2018
Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice.
He X et al.
Bba Clinical, 2017
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
Sikora J et al.
The American Journal of Pathology, 2017
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
Kim SY et al.
American Journal of Medical Genetics. Part A, 2016
Spinal muscular atrophy associated with progressive myoclonus epilepsy.
Topaloglu H et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment DA et al.
Clinical Genetics, 2014
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.
Bashyam MD et al.
Clinical Genetics, 2014
Systemic ceramide accumulation leads to severe and varied pathological consequences.
Alayoubi AM et al.
Embo Molecular Medicine, 2013
A novel mutation in an atypical presentation of the rare infantile Farber disease.
Al Jasmi F
Brain & Development, 2012
Population genetic analysis of the N-acylsphingosine amidohydrolase gene associated with mental activity in humans.
Kim HL et al.
Genetics, 2008
Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.
Muramatsu T et al.
Journal of Inherited Metabolic Disease, 2002
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression.
Li CM et al.
Genomics, 1999