Results 131 to 140 of about 4,693,382 (193)

HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA

Nature Communications
Primary cilia are dynamic sensory organelles orchestrating key signaling pathways, and disruption of primary ciliogenesis is implicated in a spectrum of genetic disorders. The peroxisomal bifunctional enzyme HSD17B4 is pivotal for peroxisomal β-oxidation
Ji-Eun Bae, Soyoung Jang, Joon Bum Kim, Na Yeon Park, Doo Sin Jo, Hyejin Hyung, Pansoo Kim, Min-Seon Kim, Hong-Yeoul Ryu, Hyun-Shik Lee, Dong-Seok Lee, Myriam Baes, Zae Young Ryoo, Dong-Hyung Cho   +13 more
doaj   +1 more source

The impact of zeaxanthin and lycopene on fatty acid beta-oxidation in isolated peroxisomes from frozen livers of obese rats

Frontiers in Molecular Biosciences
Over the past decade, research has emphasized the role of organelle dysfunction in various diseases, particularly obesity and related metabolic disorders.
Lina Baz, Mona Al-Thepyani, Mona Al-Thepyani   +2 more
doaj   +1 more source

Clinical, biochemical and genetic profiling of X-linked adrenoleukodystrophy in Egyptian pediatric patients: a hospital-based study

Egyptian Journal of Medical Human Genetics
Background X-linked adrenoleukodystrophy, the most common peroxisomal disorder, is caused by ABCD1 gene mutations. This genetic disorder is characterized by the defective degradation of very long-chain fatty acids.
Dina A. Mehaney, Laila A. Selim, Dina A. Ezzat, Mohamed Shehata, Zeinab S. Seleim, Abeer Atef El-Ashmawy, Cristiano Rizzo, Carlo Dioniasi-Vici, Doaa M. Abdou, Sarah EL-Sayegh   +9 more
doaj   +1 more source

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review

The Application of Clinical Genetics, 2018
Hadeel Alrukban,1 David Chitayat1,2 1Department of Pediatrics, Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; 2Department of Obstetrics and Gynecology, The Prenatal Diagnosis and ...
Alrukban H, Chitayat D
doaj  

Peroxisomal Disorders: A Review on Cerebellar Pathologies

Brain Pathology, 2015
S. De Munter, Simon Verheijden, L. Régal, M. Baes   +3 more
semanticscholar   +1 more source

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2019
I. De Biase, S. Tortorelli, L. Kratz, S. Steinberg, K. Cusmano-Ozog, N. Braverman   +5 more
semanticscholar   +1 more source

MRI as diagnostic tool in early-onset peroxisomal disorders

Neurology, 2012
M. S. van der Knaap, E. Wassmer, N. Wolf, P. Ferreira, M. Topçu, R. Wanders, H. Waterham, Sacha Ferdinandusse   +7 more
semanticscholar   +1 more source

Pristanic acid promotes oxidative stress in brain cortex of young rats: a possible pathophysiological mechanism for brain damage in peroxisomal disorders.

Brain Research, 2011
G. Leipnitz, A. U. Amaral, C. Fernandes, Bianca Seminotti, Â. Zanatta, L. A. Knebel, C. Vargas, M. Wajner   +7 more
semanticscholar   +1 more source

Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders.

Journal of Clinical Investigation, 1987
R. J. Wanders, C. W. V. van Roermund, M. V. van Wijland, R. Schutgens, J. Heikoop, H. van den Bosch, A. Schram, J. M. Tager   +7 more
semanticscholar   +1 more source

Peroxisomal disorders

700 Essential Neurology Checklists, 2021
Much has been learned about the group of peroxisomal disorders in recent years. This includes the development of sensitive laboratory methods allowing the measurement of the full panel of peroxisomal metabolites and follow-up enzymatic methods to pinpoint the underlying defect.
I. Imam
semanticscholar   +6 more sources