Results 131 to 140 of about 2,335 (161)

The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies

Parkinsonism and Related Disorders, 2015
Recently, an additional study confirmed the association between SMPD1 mutations and Parkinson's disease (PD). While the first study on SMPD1 and PD suggested that only one SMPD1 mutations is responsible for the association to PD, the recent study argued that all SMPD1 mutations may be associated with an increased risk for PD.
Guy A. Rouleau, Avi Orr-Urtreger, Susan Bressman   +2 more
exaly   +3 more sources

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients

Journal of Molecular Neuroscience, 2021
Lysosomal storage diseases (LSDs) are known as genetic disorders with an overall prevalence of 1 per 7700 live births. Sphingolipidosis, which is a subgroup of LSDs, is resulted from mutations in the coding genes of specific enzymes of sphingolipid hydrolases.
Rezvan Abtahi, Parvaneh Karimzadeh, Alireza Rezayi, Shadab Salehpour, Diba Akbarzadeh, Seyed Hassan Tonekaboni, Reza Zolfaghari Emameh, Massoud Houshmand   +7 more
openaire   +2 more sources

Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson’s Disease

Molecular Neurobiology, 2015
To examine the association between the sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1) gene, and Parkinson's disease (PD) in Han Chinese from Central South part of Mainland China, we performed systematic genetic analysis in 502 Chinese Han patients with PD and 637 gender-, age-, and ethnicity-matched normal controls from Central South part of
Xiong Deng, Zhi Song, Sheng Deng
exaly   +3 more sources

The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews

Parkinsonism and Related Disorders, 2015
Parkinson disease is noted for its association with mutations in GBA and the p.G2019S mutation in LRRK2. This study aimed to evaluate the frequency of Ashkenazi founder mutations in sphingomyelin phosphodiesterase 1 (SMPD1) in Ashkenazi patients diagnosed with Parkinson's disease (PD); and their impact on PD phenotypic expression.
R Gershoni-Baruch
exaly   +3 more sources

Alternative splicing of SMPD1 coding for acid sphingomyelinase in major depression

Journal of Affective Disorders, 2017
Major depressive disorder (MDD) is a psychiatric disorder characterized by key symptoms that include depressed mood and a loss of interest and pleasure. A recently developed pathogenic model of MDD involves disturbed neurogenesis in the hippocampus, where the acid sphingomyelinase (ASM)/ceramide system plays an important role and is proposed as a ...
Rhein, Cosima, Reichel, Martin, Kramer, Marcel, Rotter, Andrea, Lenz, Bernd, Mühle, Christiane, Gulbins, Erich, Kornhuber, Johannes   +7 more
openaire   +3 more sources

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Human Mutation, 2016
Niemann-Pick Types A and B (NPA/B) diseases are autosomal recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase (ASM) because of the mutations in the SMPD1 gene. Here, we provide a comprehensive updated review of already reported and newly identified SMPD1 variants.
Mirella Filocamo, Richard Sinnott, Andrea Dardis   +2 more
exaly   +2 more sources

A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease

Neurobiology of Aging, 2013
To investigate the role of mutations in the sphingomyelin phosphodiesterase (SMPD1) gene in Parkinson's disease (PD) we sequenced all the exons of this gene in 198 Chinese PD cases and matched healthy control subjects. We identified 4 rare variants in SMPD1 (p.P332R, p.Y500H, p.P533L, and p.R591C) that were present only in cases and not in control ...
Foo, J.-N., Liany, H., Bei, J.-X., Yu, X.-Q., Liu, J., Au, W.-L., Prakash, K.M., Tan, L.C., Tan, E.-K.   +8 more
openaire   +2 more sources

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

Human Mutation, 2021
Pathogenic variations in SMPD1 lead to acid sphingomyelinase deficiency (ASMD), that is, Niemann-Pick disease (NPD) type A and B (NPA, NPB), which is a recessive lysosomal storage disease. The knowledge of variant spectrum in Indian patients is crucial for early and accurate NPD diagnosis and genetic counseling of families.
Dipti Deshpande, Shailesh Kumar Gupta, Asodu Sandeep Sarma, Prajnya Ranganath, Jamal Md Nurul Jain S., Jayesh Sheth, Mehul Mistri, Neerja Gupta, Madhulika Kabra, Shubha R. Phadke, Katta M. Girisha, Ratna Dua Puri, Shagun Aggarwal, Chaitanya Datar, Kausik Mandal, Preetha Tilak, Mamta Muranjan, Sunita Bijarnia‐Mahay, Radha Rama Devi A., Naresh B. Tayade, Akash Ranjan, Ashwin B. Dalal   +21 more
openaire   +2 more sources

Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol

Human Genetics, 2003
Type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders caused by deficient activity of the enzyme acid sphingomyelinase (aSMase) and the resulting accumulation of sphingomyelin in tissues. In the present study, we investigated two family members who had been diagnosed with Type B NPD and who had a severe decrease in plasma high ...
Ching Yin, Lee, Larbi, Krimbou, Jérôme, Vincent, Chantal, Bernard, Pierre, Larramée, Jacques, Genest, Michel, Marcil   +6 more
openaire   +2 more sources

Resveratrol-induced transcriptional up-regulation of ASMase (SMPD1) of human leukemia and cancer cells

Biochemical and Biophysical Research Communications, 2016
Resveratrol (RSV) is a plant-derived phytoalexin present in plants, whose pleiotropic effects for health benefits have been previously reported. Its anti-cancer activity is among the current topics for novel cancer treatment. Here, effects of RSV on cell proliferation and the sphingolipid metabolism of K562, a human leukemia cell line, were analyzed ...
Naoki, Mizutani, Yukari, Omori, Yoshiyuki, Kawamoto, Sayaka, Sobue, Masatoshi, Ichihara, Motoshi, Suzuki, Mamoru, Kyogashima, Mitsuhiro, Nakamura, Keiko, Tamiya-Koizumi, Yoshinori, Nozawa, Takashi, Murate   +10 more
openaire   +2 more sources