Results 71 to 80 of about 2,679,717 (208)

Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal β-glucocerebrosidase

Journal of Lipid Research, 2017
Glucosylceramide (GlcCer) is the primary storage lipid in the lysosomes of Gaucher patients and a secondary one in Niemann-Pick disease types A, B, and C.
Misbaudeen Abdul-Hammed, Bernadette Breiden, Günter Schwarzmann, Konrad Sandhoff   +3 more
doaj   +1 more source

Deciphering Host Genomic Pathway Landscapes in Severe COVID‐19 by Exome Sequencing of a Large Admixed Brazilian Cohort

Journal of Medical Virology, Volume 98, Issue 11, November 2026.
ABSTRACT The host genetic factors that resulted in the heterogeneous clinical outcomes of COVID‐19 remained poorly understood, especially in admixed populations that are underrepresented in global genomic studies. In this study, we investigated the genetic landscape associated with COVID‐19 severity using whole‐exome sequencing data from 325 Brazilian ...
Aléxia Stefani Siqueira Zetum, Danielle Ribeiro Campos da Silva, Vinícius do Prado Ventorim, Felipe Ataides Mion, Felipe dos Santos Passarela, Patrícia Brasil, Túlio de Lima Campos, Bartolomeu Acioli‐Santos, Flávio Rosendo da Silva Oliveira, Raquel Silva dos Reis Trabach, Lorena Souza Castro Altoé, Débora Dummer Meira, Iúri Drumond Louro   +12 more
wiley   +1 more source

Genetic disease and Niemann-Pick disorders: novel treatments and drug delivery systems

, 2023
A large number of diseases result from mutation or alteration in the structure and function of genes. Niemann-Pick disease is a very rare autosomal recessive lysosomal storage disorder.
Dua, K, Lawson, J, Pondugula, S, Pathak, S, Harrell, E, Deruiter, J, Dhanasekaran, M   +6 more
core   +1 more source

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia

Neurología (English Edition), 2019
Introduction: Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system.
M. Arias
doaj   +1 more source

Multiomics Reveals a Production Signature Resembling Mammalian Metabolic Ageing and That Dietary Spermidine Enhances Lipid Handling in Farmed Salmon

Aging Cell, Volume 25, Issue 11, November 2026.
Lipidomic and proteomic profiling of fat and skeletal muscle from farmed Atlantic salmon at different production stages revealed a signature resembling mammalian metabolic ageing at the seawater stage. This included lipid remodelling, a reduction in markers of substrate handling for ATP production, decreased abundance of autophagy–lysosomal and ...
Kanchan Phadwal, Dominic Kurian, Jennifer Haggarty, Herve Migaud, Viktoriya Nicheva, James Dick, Muhammad Khalid F. Salamat, Phillip D. Whitfield, Chessor Matthew, Nicholas M. Wade, Mónica B. Betancor, Daniel J. Macqueen   +11 more
wiley   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, Volume 13, Issue 57, 14 October 2026.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

Analysis of Genetic Variation of rs1542705 Marker in SMPD1 Gene Region as an Informative Marker for Molecular Diagnosis of Niemann-Pick Disease in Isfahan Population [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2016
Background: Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of this disease is SMPD1.
Nasim Ebrahimi, Sadegh Vallian Borujeni
doaj  

Claves para afrontar el reto diagnóstico de las heredoataxias recesivas

Neurología, 2019
Resumen: Introducción: Las ataxias espinocerebelosas de herencia recesiva constituyen un amplio grupo de enfermedades del cerebelo y/o de sus conexiones; en muchos casos también se afectan otras partes del sistema nervioso.
M. Arias
doaj   +1 more source

c-Abl/TFEB Pathway Activation as a Common Pathogenic Mechanism in Lysosomal Storage Diseases: Therapeutic Potential of c-Abl Inhibitors

Antioxidants
Lysosomal storage diseases (LSDs) are characterized by the accumulation of undegraded substrates within lysosomes, often associated with oxidative stress and impaired lysosomal function. In this study, we investigate the role of the c-Abl/TFEB pathway in
Miguel V. Guerra, Juan Castro, Antonio Moreno, Elisa Balboa, Juan J. Marugan, Alejandra R. Alvarez, Silvana Zanlungo   +6 more
doaj   +1 more source

Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

Cell Reports, 2013
Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear.
Sovan Sarkar, Bernadette Carroll, Yosef Buganim, Dorothea Maetzel, Alex H.M. Ng, John P. Cassady, Malkiel A. Cohen, Souvik Chakraborty, Haoyi Wang, Eric Spooner, Hidde Ploegh, Joerg Gsponer, Viktor I. Korolchuk, Rudolf Jaenisch   +13 more
doaj   +1 more source