Results 141 to 150 of about 2,335 (161)

rs1542705–67,992,843-1,050,239 represents a novel informative haplotype at the SMPD1 locus in the Iranian population

Meta Gene, 2020
Abstract Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that cause abnormal metabolism of lipids. Direct sequencing and deletion analysis is used to detect mutations and sequence variations in the SMPD1 gene. However, due to technical difficulties, linkage analysis of polymorphic markers such as single nucleotide ...
Nasim Ebrahimi, Nafise Moeinifar, Sadeq Vallian   +2 more
openaire   +1 more source

[Analysis of SMPD1 gene mutations in Chinese patients with Parkinson's disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
To explore the role of sphingomyedlin phosphodiesterase 1 (SMPD1) gene mutations in the pathogenesis of Parkinson's disease (PD).For 110 Chinese patients with PD, all exons of the SMPD1 gene were sequenced, and the results were compared with reference sequence from GenBank to identify possible mutations.A novel heterozygous mutation Ex2:c.677C>A/p ...
Na, Song, Wei, Wang, Chao, Chen, Jianyi, Niu, Yuxuan, Guojin, Cunju, Guo, Fabin, Han   +6 more
openaire   +1 more source

The role of SMPD1 in the innate immune system’s response to respiratory bacterial infections

2015
Rousseau, Simon (Internal/Supervisor)
openaire   +1 more source

LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews.

Dementia and geriatric cognitive disorders, 2018
Parkinson's disease (PD) is associated with mutations in LRRK2, GBA, and SMPD1 genes. We describe the clinical characteristics of PD patients related to their carrier status of the Ashkenazi founder mutations in the aforementioned genes.Ashkenazi PD patients (n = 270) were recruited following informed consent, and tested for the founder Ashkenazi ...
Efrat, Dagan, Ilana, Schlesinger, Alina, Kurolap, Mareemar, Ayoub, Maria, Nassar, Judith, Peretz-Aharon, Ruth, Gershoni-Baruch   +6 more
openaire   +1 more source

Parkinson disease penetrance in obligate carriers of SMPD1 mutations

Molecular Genetics and Metabolism, 2017
Adina H Wise, Melissa P Wasserstein, Roy N Alcalay   +2 more
openaire   +1 more source

A 2-bp deletion mutation in SMPD1 gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree

Journal of Pediatric Endocrinology and Metabolism, 2022
Shiying Zhong, Kang Han
exaly  

SMPD1

2018
openaire   +1 more source

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

Movement Disorders, 2019
Lior Greenbaum, Nicolas Dupré, Omid Tavassoly   +2 more
exaly  

SMPD1 modulates malignant progress of osteosarcoma through ferroptosis pathway

Tissue and Cell
Chong Guo, Kaiqiong Liao, Guanglong Chen, Kai Xu, Jun Yang, Jiongfeng Zhang, Xiaohui Luo, Feifei Zhang, Chun Cheng, Xiao-Bin Lv, Zhiping Zhang   +10 more
openaire   +1 more source

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease†‡

Human Mutation, 2005
Mirella Filocamo, Andrea Dardis, Alberto B Burlina   +2 more
exaly