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Year Number of Results
1991 2
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318 results

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Page 1
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S, Filocamo M, Pianta A, Lualdi S, Gort L, Coll MJ, Sinnott R, Geberhiwot T, Bembi B, Dardis A. Zampieri S, et al. Hum Mutat. 2016 Feb;37(2):139-47. doi: 10.1002/humu.22923. Epub 2015 Dec 1. Hum Mutat. 2016. PMID: 26499107 Review.
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 a …
Niemann-Pick Types A and B (NPA/B) diseases are autosomal recessive lysosomal storage disorders caused by the deficient activity of acid sph …
SMPD1 gene variants in patients with beta-Thalassemia major.
Dursun FE, Özen F. Dursun FE, et al. Mol Biol Rep. 2023 Apr;50(4):3355-3363. doi: 10.1007/s11033-023-08275-x. Epub 2023 Feb 1. Mol Biol Rep. 2023. PMID: 36725747 Free PMC article.
We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 (SMPD1) gene variants on the clinical and laboratory findings in patients with beta-thalassemia major. ...The SMPD1 gene c.132_143del, p.A46_L49del (c.108GCTGGC[4] (p.38AL[4])) (rs3838786) vari …
We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 (SMPD1) gene variants on the clinical and laboratory finding …
SMPD1 mutations, activity, and alpha-synuclein accumulation in Parkinson's disease.
Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu RYJ, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA, Gan-Or Z. Alcalay RN, et al. Mov Disord. 2019 Apr;34(4):526-535. doi: 10.1002/mds.27642. Epub 2019 Feb 20. Mov Disord. 2019. PMID: 30788890 Free PMC article.
BACKGROUND: SMPD1 (acid-sphingomyelinase) variants have been associated with Parkinson's disease in recent studies. The objective of this study was to further investigate the role of SMPD1 mutations in PD. METHODS: SMPD1 was sequenced in 3 cohorts (Israel Ash …
BACKGROUND: SMPD1 (acid-sphingomyelinase) variants have been associated with Parkinson's disease in recent studies. The objective of …
Types A and B Niemann-Pick disease.
Schuchman EH, Desnick RJ. Schuchman EH, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):27-33. doi: 10.1016/j.ymgme.2016.12.008. Epub 2016 Dec 16. Mol Genet Metab. 2017. PMID: 28164782 Free PMC article. Review.
All patients with types A and B NPD have mutations in the gene encoding ASM (SMPD1), and thus the disease is more accurately referred to as ASM deficiency (ASMD). ...
All patients with types A and B NPD have mutations in the gene encoding ASM (SMPD1), and thus the disease is more accurately referred …
The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism.
Pfrieger FW. Pfrieger FW. Prog Lipid Res. 2023 Apr;90:101225. doi: 10.1016/j.plipres.2023.101225. Epub 2023 Mar 31. Prog Lipid Res. 2023. PMID: 37003582 Free article. Review.
Acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD) are caused by specific variants of the sphingomyelin phosphodiesterase 1 (SMPD1) and NPC intracellular cholesterol transporter 1 (NPC1) or NPC intracellular cholesterol transporter 2 (NPC2) gene …
Acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD) are caused by specific variants of the sphingomyelin phosphod …
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R, Qin Z, Huang L, Luo H, Peng H, Zhou X, Zhao Z, Liu M, Yang P, Shi T. Wang R, et al. Hereditas. 2023 Mar 13;160(1):11. doi: 10.1186/s41065-023-00272-1. Hereditas. 2023. PMID: 36907956 Free PMC article.
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann-Pick disease (NPD) is a rare genetic disease caused by mutations in SMPD1 gene, which encodes sphingomyelin phosphodiesterase (ASM). ...In addition, we also predicted 21 new pathogenic muta …
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann-Pick disease (NPD) is a rare genetic disease caused by m …
SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease.
Mao CY, Yang J, Wang H, Zhang SY, Yang ZH, Luo HY, Li F, Shi M, Liu YT, Zhuang ZP, Du P, Wang YH, Shi CH, Xu YM. Mao CY, et al. Parkinsonism Relat Disord. 2017 Jan;34:59-61. doi: 10.1016/j.parkreldis.2016.10.014. Epub 2016 Oct 19. Parkinsonism Relat Disord. 2017. PMID: 27814975
Several other studies about the association between SMPD1 variants and PD were performed afterward in other populations. However, the results on the role of SMPD1 mutations for PD have been conflicting. This study aimed to investigate the role of mutations in SMP …
Several other studies about the association between SMPD1 variants and PD were performed afterward in other populations. However, the …
SMPD1 mutations and Parkinson disease.
Dagan E, Adir V, Schlesinger I, Borochowitz Z, Ayoub M, Mory A, Nassar M, Kurolap A, Aharon-Peretz J, Gershoni-Baruch R. Dagan E, et al. Parkinsonism Relat Disord. 2015 Oct;21(10):1296-7. doi: 10.1016/j.parkreldis.2015.08.019. Epub 2015 Aug 20. Parkinsonism Relat Disord. 2015. PMID: 26318962 No abstract available.
Protecting mitochondria via inhibiting VDAC1 oligomerization alleviates ferroptosis in acetaminophen-induced acute liver injury.
Niu B, Lei X, Xu Q, Ju Y, Xu D, Mao L, Li J, Zheng Y, Sun N, Zhang X, Mao Y, Li X. Niu B, et al. Cell Biol Toxicol. 2022 Jun;38(3):505-530. doi: 10.1007/s10565-021-09624-x. Epub 2021 Aug 17. Cell Biol Toxicol. 2022. PMID: 34401974
Ceramide and cardiolipin levels were increased via UAMC3203 or VBIT-12 in APAP-induced ferroptosis in hepatocytes. Knockdown of Smpd1 and Taz expression responsible for ceramide and cardiolipin synthesis, respectively, aggravated APAP-induced mitochondrial dysfunction and …
Ceramide and cardiolipin levels were increased via UAMC3203 or VBIT-12 in APAP-induced ferroptosis in hepatocytes. Knockdown of Smpd1 …
318 results