Results 61 to 70 of about 4,693,382 (193)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Peroxisomal defects in microglial cells induce a disease-associated microglial signature

Frontiers in Molecular Neuroscience, 2023
Microglial cells ensure essential roles in brain homeostasis. In pathological condition, microglia adopt a common signature, called disease-associated microglial (DAM) signature, characterized by the loss of homeostatic genes and the induction of disease-
Quentin Raas, Ali Tawbeh, Mounia Tahri-Joutey, Mounia Tahri-Joutey, Catherine Gondcaille, Céline Keime, Romain Kaiser, Doriane Trompier, Boubker Nasser, Valerio Leoni, Emma Bellanger, Maud Boussand, Yannick Hamon, Alexandre Benani, Francesca Di Cara, Caroline Truntzer, Mustapha Cherkaoui-Malki, Pierre Andreoletti, Stéphane Savary   +18 more
doaj   +1 more source

Lipid droplet profiling during neutrophil differentiation by stimulated Raman scattering microscopy

Biotechnology Progress, EarlyView.
Abstract Lipid droplets (LDs) are dynamic organelles that serve as metabolic hubs and emerging regulators of immune cell fate. Although LDs have been implicated in immune regulation, how LD metabolism is remodeled during neutrophil differentiation and how stage‐specific LD dynamics shape mature neutrophil function remain poorly defined.
Ting‐Jung Sung, Bin Dong, Jingqiao Shen, Yan Tan, Chi Zhang, Xiaoping Bao   +5 more
wiley   +1 more source

Peroxisome biogenesis disorders

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006
Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP).
Steinberg, Steven J., Dodt, Gabriele, Raymond, Gerald V., Braverman, Nancy E., Moser, Ann B., Moser, Hugo W.   +5 more
openaire   +2 more sources

Identification and characterization of novel peroxisomal disorders [PDF]

, 2018
Peroxisomes are vital organelles found in virtually every human cell. Defects in peroxisomes may lead to peroxisomal disorders, for example the autosomal recessive Zellweger Spectrum Disorders (ZSDs) which are caused by mutations in different PEX genes ...
Falkenberg, K.D.
core   +13 more sources

Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers

Molecular Genetics and Metabolism Reports, 2020
Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs and
Mousumi Bose, David D. Cuthbertson, Marsha A. Fraser, Jean-Baptiste Roullet, K. Michael Gibson, Dana R. Schules, Kelly M. Gawron, Melissa B. Gamble, Kathryn M. Sacra, Melisa J. Lopez, William B. Rizzo   +10 more
doaj   +1 more source

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

Journal of Inherited Metabolic Disease, 2016
Peroxisomes are dynamic organelles that play an essential role in a variety of metabolic pathways. Peroxisomal dysfunction can lead to various biochemical abnormalities and result in abnormal metabolite levels, such as increased very long-chain fatty ...
S. Ferdinandusse, M. S. Ebberink, F. Vaz, H. Waterham, R. Wanders   +4 more
semanticscholar   +1 more source

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.
Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li, Max Homilius, Erin Achilles, Laura K. Massey, Victoria Convey, Åsa Ohlsson, Ingrid Ljungvall, Jens Häggström, Brittany Vester Boler, Pascal Steiner, Sharlene Day, Calum A. MacRae, Mark A. Oyama   +12 more
wiley   +1 more source

Control of mitochondrial dynamics and apoptotic pathways by peroxisomes

Frontiers in Cell and Developmental Biology, 2022
Peroxisomes are organelles containing different enzymes that catalyze various metabolic pathways such as β-oxidation of very long-chain fatty acids and synthesis of plasmalogens. Peroxisome biogenesis is controlled by a family of proteins called peroxins,
Chenxing Jiang, Tomohiko Okazaki
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source