Results 41 to 50 of about 8,302 (215)

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids [PDF]

, 2008
Very-long-chain fatty acids (VLCFAs) have long been known to be degraded exclusively in peroxisomes via beta-oxidation. A defect in peroxisomal beta-oxidation results in elevated levels of VLCFAs and is associated with the most frequent inherited ...
Dacremont, Georges, Kemp, Stephan, Ofman, Rob, Sanders, Robert-Jan, Wanders, Ronald J. A.   +4 more
core   +2 more sources

Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis

Journal of Lipid Research, 2002
To unravel the conflicting data concerning the dependence of human cholesterol biosynthesis on functional peroxisomes, we determined activities and levels of selected enzymes involved in cholesterol biosynthesis in livers of PEX5 knockout mice, a well ...
Sietske Hogenboom, Gerrit Jan Romeijn, Sander M. Houten, Myriam Baes, Ronald J.A. Wanders, Hans R. Waterham   +5 more
doaj   +1 more source

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

Molecular Genetics and Metabolism Reports, 2021
Background: Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders that affect multiple organ systems. Approximately 80% of PBD patients are classifiedin the Zellweger syndrome spectrum, which is generally caused
Natalia A. Semenova, Marina V. Kurkina, Andrey V. Marakhonov, Elena L. Dadali, Natalia N. Taran, Tatyana V. Strokova   +5 more
doaj   +1 more source

A TSC signaling node at the peroxisome regulates mTORC1 and autophagy in response to ROS [PDF]

, 2014
Subcellular localization is emerging as an important mechanism for mTORC1 regulation. We report that the tuberous sclerosis complex (TSC) signaling node, TSC1, TSC2 and Rheb, localizes to peroxisomes, where it regulates mTORC1 in response to reactive ...
Alexander, Angela, Cai, Shengli, Dere, Ruhee, Di Nardo, Alessia, Dodd, Kayleigh M., Dunlop, Elaine A., Faust, Phyllis L., Folkerth, Rebecca D., Han, Juliette M., Kastan, Michael B., Kim, Jinhee, Kwiatkowski, Erica, Sahin, Mustafa, Tait-Mulder, Jacqueline, Tee, Andrew R., Tripathi, Durga Nand, Walker, Cheryl Lyn, Zhang, Jiangwei   +17 more
core   +1 more source

A comparative study of straight chain and branched chain fatty acid oxidation in skin fibroblasts from patients with peroxisomal disorders.

Journal of Lipid Research, 1990
The beta-oxidation of stearic acid and of alpha- and gamma-methyl isoprenoid-derived fatty acids (pristanic and tetramethylheptadecanoic acids, respectively) was investigated in normal skin fibroblasts and in fibroblasts from patients with inherited ...
H Singh, S Usher, D Johnson, A Poulos
doaj   +1 more source

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment [PDF]

, 2016
Acyl CoA Oxidase 2 (ACOX2) encodes branched-chain acyl-CoA oxidase, a peroxisomal enzyme believed to be involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Deficiency of this enzyme has not been described previously.
Akyol, G, Bilgüvar, K, Clayton, PT, Dalgiç, B, Esendagli-Yilmaz, G, Günel, M, Jain, D, Lifton, RP, Mazzacuva, F, Sari, S, Vilarinho, S   +10 more
core   +1 more source

Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome.

Journal of Lipid Research, 1985
The cerebro-hepato-renal (Zellweger) syndrome is an autosomal recessive disorder biochemically characterized by the absence of morphologically distinguishable peroxisomes.
G Schrakamp, C F Roosenboom, R B Schutgens, R J Wanders, H S Heymans, J M Tager, H van den Bosch   +6 more
doaj   +1 more source

The Δ4-desaturation pathway for DHA biosynthesis is operative in the human species: Differences between normal controls and children with the Zellweger syndrome [PDF]

, 2010
Background Docosahexaenoic acid (DHA, 22:6ω3) is a fundamental component of cell membranes, especially in the brain and retina. In the experimental animal, DHA deficiency leads to suboptimal neurological performance and visual deficiencies. Children with
Manuela Martinez, Natalia Ichaso, Fernando Setien, Nuria Durany, Xiao Qiu, William Roesler   +5 more
core   +1 more source

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

Molecular Genetics and Metabolism Reports, 2022
Background: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by variants in the ABCD1 gene and can lead to Addison disease, childhood cerebral ALD, or adrenomyeloneuropathy.
Hui-An Chen, Rai-Hseng Hsu, Pin-Wen Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien   +6 more
doaj   +1 more source