Results 11 to 20 of about 2,188 (120)

Risperidone induces osteoporosis and neuropsychiatric treatment resistance via SMPD1-lysosome-mediated ferroptosis: dual rescue by active vitamin D analog ED-71

Journal of Advanced Research
Introduction: Risperidone (RIS), a second-generation antipsychotic for schizophrenia (SZ), is linked to osteoporosis and suboptimal symptom resolution. The shared cellular mechanisms underlying these cross-tissue toxicities (bone and hippocampus) remain ...
Minqi Li, Yu Ji
exaly   +3 more sources

Ceramide-induced cleavage of GPR64 intracellular domain drives Ewing sarcoma [PDF]

Cell Reports
Summary: Ewing sarcoma is a cancer of bone and soft tissue in children and young adults primarily driven by the EWS-FLI1 fusion oncoprotein, which has been undruggable.
Kruthi Suvarna, Panneerselvam Jayabal, Xiuye Ma, Hu Wang, Yidong Chen, Susan T. Weintraub, Xianlin Han, Peter J. Houghton, Yuzuru Shiio   +8 more
doaj   +2 more sources

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina

JIMD Reports
Acid sphingomyelinase deficiency (ASMD), historically known as Niemann‐Pick disease, is a rare and potentially fatal lysosomal storage disease caused by pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, which encodes acid ...
Maria Cristina Robin, Consuelo Durand, Guillermo Guelbert, Norberto Guelbert, Mariana Leguizamon, Mariana Nuñez Miñana, Maria Alejandra Cédola, Maria Gabriela deLourdes Pacheco, Evangelina Gonzalez, Marisa Spallina, Sandra Quijano   +10 more
doaj   +2 more sources

MAVISp: A modular structure-based framework for protein variant effects. [PDF]

Protein Sci
Abstract The role of genomic variants in disease has expanded significantly with the advent of advanced sequencing techniques. The rapid increase in identified genomic variants has led to many variants being classified as Variants of Uncertain Significance or as having conflicting evidence, posing challenges for their interpretation and ...
Arnaudi M, Utichi M, Degn K, Tiberti M, Beltrame L, Krzesińska K, Besora PS, Kiachaki E, Scrima S, Bauer L, Meldgård K, Melidi A, Favaro L, Oswal A, Tedeschi G, Dorčaková T, Estad AH, Breitenstein J, Safer J, Saridaki P, Sora V, Maselli F, Becker P, Vinhas J, Pettenella A, Lambrughi M, Cava C, Rohlin A, Nilbert M, Iqbal S, Sackett PW, Fas BA, Papaleo E.   +32 more
europepmc   +2 more sources

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature [PDF]

Molecular and Cellular Pediatrics
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, is a rare autosomal recessive lysosomal storage disorder caused by SMPD1 mutations.
Mohamed El-mezayen, Abdelrahman M. Tawfik, Abdalla M. Hadhoud, Virginia M. Gerges, Mohamed H. Afify   +4 more
doaj   +2 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]

Dev Med Child Neurol
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM, Maunder PJ, Winstone AM, Pal S.   +3 more
europepmc   +2 more sources

SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency

Hereditas, 2023
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).
Ruisong Wang, Ziyi Qin, Long Huang, Huiling Luo, Han Peng, Xinyu Zhou, Zhixiang Zhao, Mingyao Liu, Pinhong Yang, Tieliu Shi   +9 more
doaj   +1 more source

Gene expression of ceramide metabolism enzymes in fat depots of different localization in cardiovascular diseases

Российский кардиологический журнал, 2023
Aim. To assess gene expression of enzymes of the sphingomyelinase pathway of ceramide biosynthesis and degradation in fat depots of various localization in patients with cardiovascular diseases.Material and methods.
O. V. Gruzdeva, E. V. Belik, Yu. A. Dyleva, E. G. Uchasova, A. V. Ponasenko, A. G. Kutikhin, V. E. Markova, E. E. Gorbatovskaya, E. V. Fanaskova, S. V. Ivanov, A. N. Stasev, M. G. Zinets, T. A. Slesareva, O. L. Barbarash   +13 more
doaj   +1 more source

Alternative splicing of SMPD1 in human sepsis. [PDF]

PLoS ONE, 2015
Acid sphingomyelinase (ASM or sphingomyelin phosphodiesterase, SMPD) activity engages a critical role for regulation of immune response and development of organ failure in critically ill patients.
Marcel Kramer, Stefanie Quickert, Christoph Sponholz, Uwe Menzel, Klaus Huse, Matthias Platzer, Michael Bauer, Ralf A Claus   +7 more
doaj   +1 more source

Mir-16 Decreases the Expression of VTI1B and SMPD1, Genes Involved in Membrane-Protein Trafficking in Melanoma [PDF]

Cancers
Yechezkel Sidi, Raya Leibowitz-Amit, Dror Avni   +2 more
exaly   +2 more sources