Results 21 to 30 of about 7,958 (196)

Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.

Journal of Lipid Research, 1988
In recent years a growing number of inherited diseases have been recognized to originate from an impairment in one or more peroxisomal functions. Since it is well established that the first two steps in the biosynthesis of plasmalogens proceed in ...
G Schrakamp, C G Schalkwijk, R B Schutgens, R J Wanders, J M Tager, H van den Bosch   +5 more
doaj   +1 more source

Hyperhomocysteinemia induced by excessive methionine intake promotes rupture of cerebral aneurysms in ovariectomized rats. [PDF]

, 2016
BackgroundHyperhomocysteinemia (HHcy) is associated with inflammation and a rise in the expression of matrix metalloproteinase-9 (MMP-9) in the vascular wall.
Hashimoto, Tomoki, Kanematsu, Yasuhisa, Kitazato, Keiko T, Korai, Masaaki, Matsushita, Nobuhisa, Miyamoto, Takeshi, Nagahiro, Shinji, Satomi, Junichiro, Shimada, Kenji, Tada, Yoshiteru   +9 more
core   +2 more sources

Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease

Journal of Lipid Research, 2003
Adult Refsum disease (ARD) is associated with defective α-oxidation of phytanic acid (PA). ω-Oxidation of PA to 3-methyl-adipic acid (3-MAA) occurs although its clinical significance is unclear.
Anthony S. Wierzbicki, Phillip D. Mayne, Matthew D. Lloyd, David Burston, Guam Mei, Margaret C. Sidey, Michael D. Feher, F. Brian Gibberd   +7 more
doaj   +1 more source

Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review

Frontiers in Pediatrics, 2021
Zellweger spectrum disorder (ZSD) is a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome formation and attributable to mutations in the PEX gene family.
Kai Chen, Na Zhang, Jing-Bo Shao, Hong Li, Jie Li, Jia-Ming Xi, Wu-Hen Xu, Hui Jiang   +7 more
doaj   +1 more source

Role of B vitamins in modulating homocysteine and metabolic pathways linked to brain atrophy: Metabolomics insights from the VITACOG trial. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Elevated total homocysteine (tHcy) is a major predictor of brain atrophy, cognitive decline, and Alzheimer's disease (AD) progression. The VITACOG trial, a randomized, placebo‐controlled study in mild cognitive impairment (MCI), previously showed that B vitamin supplementation lowered tHcy, slowing brain atrophy and cognitive ...
Kacerova T, Yates AG, Dai J, Shepherd D, Pires E, de Jel S, Gong Q, Schiffer E, Jernerén F, Olsen T, De Jager Loots CA, Refsum H, Smith AD, McCullagh JSO, Anthony DC, Probert F.   +15 more
europepmc   +2 more sources

Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes

Journal of Lipid Research, 1993
The oxidation of phytanic acid to pristanic acid was previously demonstrated to be deficient in monolayer cultures of skin fibroblasts (Herndon et al. 1969. J. Clin. Invest. 48: 1017-1032).
I Singh, K Pahan, AK Singh, E Barbosa
doaj   +1 more source

Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12

BMC Medical Genomics, 2023
Background Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerative disease.
Ahmad Daneshi, Masoud Garshasbi, Mohammad Farhadi, Khalil Ghasemi Falavarjani, Mohammad Vafaee-Shahi, Navid Almadani, MohammadSina Zabihi, Mohammad Amin Ghalavand, Masoumeh Falah   +8 more
doaj   +1 more source

Influence of hyperhomocysteinemia on the cellular redox state - Impact on homocysteine-induced endothelial dysfunction [PDF]

, 2003
Hyperhomocysteinemia is an independent risk factor for the development of atherosclerosis. An increasing body of evidence has implicated oxidative stress as being contributory to homocysteines deleterious effects on the vasculature.
Adachi T, Andersson A, Bagi Z, Bellamy MF, Chambers JC, Chambers JC, Chao CL, Flohé L, Forgione MA, Guttormsen AB, Huang R-FS, Kanani PM, Karlsson K, Lang D, Lentz SR, Mansoor MA, Mansoor MA, Mansoor MA, Mansoor MA, O'Donnell VB, Outinen PA, Pritchard, Rubbo H, Tawakol A, Ungvari Z, Weiss N, Wilcken DE, Woo KS, Zhang F, Zhang X   +29 more
core   +1 more source

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

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