Results 21 to 30 of about 2,188 (120)

Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants

Journal of Biochemical and Clinical Genetics, 2019
Background: Niemann–Pick (NP) disease is a genetically heterogeneous metabolic disorder caused by bi-allelic variants in NPC1, NPC2, or SMPD1, with initial symptoms and age at onset varying widely.
Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs   +7 more
doaj   +1 more source

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. [PDF]

PLoS ONE, 2015
Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute to disease pathogenesis.We performed a genetic analysis of four LSD genes including GBA, HEXA ...
Lorraine N Clark, Robin Chan, Rong Cheng, Xinmin Liu, Naeun Park, Nancy Parmalee, Sergey Kisselev, Etty Cortes, Paola A Torres, Gregory M Pastores, Jean P Vonsattel, Roy Alcalay, Karen Marder, Lawrence L Honig, Stanley Fahn, Richard Mayeux, Michael Shelanski, Gilbert Di Paolo, Joseph H Lee   +18 more
doaj   +1 more source

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

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

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

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Annals of Hepatology, 2019
Introduction and Objectives: Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1.
Magdalena Cerón-Rodríguez, Edgar Ricardo Vázquez-Martínez, Constanza García-Delgado, Alberto Ortega-Vázquez, Pedro Valencia-Mayoral, Lyuva Ramírez-Devars, Christian Arias-Villegas, Irma Eloísa Monroy-Muñoz, Marisol López, Alicia Cervantes, Marco Cerbón, Verónica Fabiola Morán-Barroso   +11 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