Results 21 to 30 of about 2,335 (161)

Targeting glioblastoma signaling and metabolism with a re-purposed brain-penetrant drug

Cell Reports, 2021
Summary: The highly lethal brain cancer glioblastoma (GBM) poses a daunting challenge because the blood-brain barrier renders potentially druggable amplified or mutated oncoproteins relatively inaccessible.
Junfeng Bi, Atif Khan, Jun Tang, Aaron M. Armando, Sihan Wu, Wei Zhang, Ryan C. Gimple, Alex Reed, Hui Jing, Tomoyuki Koga, Ivy Tsz-Lo Wong, Yuchao Gu, Shunichiro Miki, Huijun Yang, Briana Prager, Ellis J. Curtis, Derek A. Wainwright, Frank B. Furnari, Jeremy N. Rich, Timothy F. Cloughesy, Harley I. Kornblum, Oswald Quehenberger, Andrey Rzhetsky, Benjamin F. Cravatt, Paul S. Mischel   +24 more
doaj   +1 more source

Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease [PDF]

International Journal of Molecular Sciences, 2015
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.
Cosima Rhein, Christiane Mühle, Johannes Kornhuber, Martin Reichel   +3 more
openaire   +2 more sources

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome

BMC Medical Genomics, 2022
Background The chronic visceral subtype of acid sphingomyelinase deficiency, commonly known as Niemann Pick disease type B (NPDB), is a relatively rare autosomal recessive genetic disorder that is caused by mutations in the SMPD1 gene. NPDB with sea-blue
Zhe-wen Zhou, Shou-hao Wang, Cheng-an Xu, Wen-hao Wu, Tian-chen Hui, Qiao-qiao Yin, Wei Zheng, Hong-ying Pan   +7 more
doaj   +1 more source

Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease [PDF]

The American Journal of Human Genetics, 2006
Acid sphingomyelinase (ASM) is the lipid hydrolase that is deficient in types A and B Niemann-Pick disease (NPD). Here, we demonstrate that the gene encoding ASM (SMPD1) is paternally imprinted and that differential expression of the mutant alleles in patients with ASM-deficient NPD and in carriers influences the disease phenotype.
Simonaro, Calogera M., Park, Jae-Ho, Eliyahu, Efrat, Shtraizent, Nataly, McGovern, Margaret M., Schuchman, Edward H.   +5 more
openaire   +2 more sources

In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity [PDF]

International Journal of Molecular Sciences, 2021
Sphingomyelin phosphodiesterase (SMPD1) is a key enzyme in the sphingolipid metabolism. Genetic SMPD1 variants have been related to the Niemann-Pick lysosomal storage disorder, which has different degrees of phenotypic severity ranging from severe symptomatology involving the central nervous system (type A) to milder ones (type B).
François Ancien, Fabrizio Pucci, Marianne Rooman   +2 more
openaire   +4 more sources

Acid sphingomyelinase deficiency in Western diet-fed mice protects against adipocyte hypertrophy and diet-induced liver steatosis

Molecular Metabolism, 2017
Objective: Alterations in sphingolipid and ceramide metabolism have been associated with various diseases, including nonalcoholic fatty liver disease (NAFLD).
Svenja Sydor, Jan-Peter Sowa, Dominik A. Megger, Martin Schlattjan, Sami Jafoui, Lena Wingerter, Alexander Carpinteiro, Hideo A. Baba, Lars P. Bechmann, Barbara Sitek, Guido Gerken, Erich Gulbins, Ali Canbay   +12 more
doaj   +1 more source

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

BMC Medical Genetics, 2020
Background Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.
L. Ordieres-Ortega, F. Galeano-Valle, M. Mallén-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther, P. Demelo-Rodríguez   +7 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene

Stem Cell Research, 2019
Niemann-Pick disease type B (NPB) is a rare autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, which encodes for acid sphingomyelinase.
Amanda Baskfield, Rong Li, Jeanette Beers, Jizhong Zou, Chengyu Liu, Wei Zheng   +5 more
doaj   +1 more source

Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges

Molecular Genetics and Metabolism Reports, 2022
Acid sphingomyelinase deficiency (ASMD) is caused by pathogenic variants in the SMPD1 gene. This chronic, progressive, and potentially fatal condition requires prompt specialist care. The diagnosis of ASMD can be delayed or missed if patients that harbor
Ulrike Blümlein, Eugen Mengel, Yasmina Amraoui   +2 more
doaj   +1 more source

Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

BMC Medical Genetics, 2007
Background Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene.
Genest Jacques, Engert James C, Ruel Isabelle L, Dastani Zari, Marcil Michel   +4 more
doaj   +1 more source