ArticleInternational journal of molecular sciences2015
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.
Article in International journal of molecular sciences, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- SMPD1 gene variants in patients with β-Thalassemia major.Molecular biology reports · 2023Article
- Keep Your Friends Close, but Your Enemies Closer: Role of Acid Sphingomyelinase During Infection and Host Response.Frontiers in medicine · 2020Review
- Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.Orphanet journal of rare diseases · 2019Article
- Peripheral Acid Sphingomyelinase Activity Is Associated with Biomarkers and Phenotypes of Alcohol Use and Dependence in Patients and Healthy Controls.International journal of molecular sciences · 2018Article
- Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).Orphanet journal of rare diseases · 2017Review
- Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease.Molecular neurobiology · 2016Article
Corrections and comments
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4 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are associated with decreased catalytic activity of acid sphingomyelinase (ASM) and are the cause of the autosomal recessive lysosomal storage disorder Niemann-Pick disease (NPD) types A and B. Currently, >100 missense mutations in SMPD1 are listed in the Human Gene Mutation Database. However, not every sequence variation in SMPD1 is detrimental and gives rise to NPD. We have analysed several alleged SMPD1 missense mutations mentioned in a recent publication and found them to be common variants of SMPD1 that give rise to normal in vivo and in vitro ASM activity. (Comment on Manshadi et al. Int. J. Mol. Sci. 2015, 16, 6668-6676).
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