Results 21 to 30 of about 1,353,029 (249)

Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients

Orphanet Journal of Rare Diseases, 2023
Background The peroxisome is a ubiquitous single membrane-enclosed organelle with an important metabolic role. Peroxisomal disorders represent a class of medical conditions caused by deficiencies in peroxisome function and are segmented into enzyme-and ...
Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi, Guoli Tian   +7 more
doaj   +1 more source

Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. [PDF]

PLoS ONE, 2011
The peroxisome biogenesis disorders (PBDs) are currently difficult-to-treat multiple-organ dysfunction disorders that result from the defective biogenesis of peroxisomes. Genes encoding Peroxins, which are required for peroxisome biogenesis or functions,
Minoru Nakayama, Hiroyasu Sato, Takayuki Okuda, Nao Fujisawa, Nozomu Kono, Hiroyuki Arai, Emiko Suzuki, Masato Umeda, Hiroyuki O Ishikawa, Kenji Matsuno   +9 more
doaj   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing

Molecular Genetics & Genomic Medicine, 2020
Background Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome ...
Yuan Tian, Linlin Zhang, Ying Li, Jinshuang Gao, Haiyang Yu, Yaqing Guo, Liting Jia   +6 more
doaj   +1 more source

A comparative study of peroxisomal structures in Hansenula polymorpha pex mutants [PDF]

, 2007
In a recent study, we performed a systematic genome analysis for the conservation of genes involved in peroxisome biogenesis (PEX genes) in various fungi.
Koek, Anne,, Veenhuis, Marten,, Komori, Masayuki,, Komori, Masayuki, Klei, Ida J. van der,, Koek, Anne, Veenhuis, Marten, van der Klei, Ida J.; id_orcid, van der Klei, Ida J.   +8 more
core   +2 more sources

The Nitric Oxide Donor, S-Nitrosoglutathione, Rescues Peroxisome Number and Activity Defects in PEX1G843D Mild Zellweger Syndrome Fibroblasts

Frontiers in Cell and Developmental Biology, 2021
Peroxisome biogenesis disorders (PBDs) are a group of metabolic developmental diseases caused by mutations in one or more genes encoding peroxisomal proteins.
Yidi Liu, Ceileigh M. Weaver, Yarina Sen, Gary Eitzen, Andrew J. Simmonds, Lilliana Linchieh, Olivier Lurette, Etienne Hebert-Chatelain, Richard A. Rachubinski, Francesca Di Cara   +9 more
doaj   +1 more source

Genomic organization, expression analysis, and chromosomal localization of the mouse PEX3 gene encoding a peroxisomal assembly protein [PDF]

, 2000
The peroxin Pex3p has been identified as an integral peroxisomal membrane protein in yeast where pex3 mutants lack peroxisomal remnant structures.
Muntau, Anja C., Muntau, AC, Mayerhofer, Peter U., Albet, Sabrina, Bugaut, Maurice, Bugaut, M, Mayerhofer, PU, Roscher, AA, Albet, S, Kammerer, S, Schmid, Thomas E., Roscher, Adelbert A., Kammerer, Stefan, Schmid, TE   +13 more
core   +1 more source

Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype [PDF]

, 2002
Zellweger syndrome is the archetypical peroxisome biogenesis disorder and is characterized by defective import of proteins into the peroxisome, leading to peroxisomal metabolic dysfunction and widespread tissue pathology.
Kay, Graham F., Crane, Denis I., C. Paton, Barbara, Maxwell, M., Crane, D., Paterson, Carol, Kay, G., Bjorkman, J., Paterson, C., Nguyen, Tam, Sharp, P., Finnie, J., Nguyen, T., F. Kay, Graham, Paton, B., Maxwell, Megan, Tonks, I., Sharp, Peter, Crane, Denis, Paton, Barbara C., Bjorkman, Jonas, Finnie, John, Tonks, Ian   +22 more
core   +1 more source

Molecular analysis and prenatal diagnosis of peroxisome biogenesis disorders (1) Genomic stucture and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders (2) Prenatal diagnosis of peroxisome biogenesis disorders by means of immunofluorescence staining of cultured chorionic villous cells [PDF]

, 2000
博士論文 (Doctoral dissertation)(1) Genomic stucture and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders(2) Prenatal diagnosis of peroxisome biogenesis disorders by means ...
397137, 張, 忠義
core   +2 more sources

Peroxisome Deficiency Impairs BDNF Signaling and Memory

Frontiers in Cell and Developmental Biology, 2020
Peroxisome is an intracellular organelle that functions in essential metabolic pathways including β-oxidation of very-long-chain fatty acids and biosynthesis of plasmalogens.
Yuichi Abe, Yuichi Abe, Yoshiki Nishimura, Kaori Nakamura, Shigehiko Tamura, Shigehiko Tamura, Masanori Honsho, Hiroshi Udo, Toshihide Yamashita, Yukio Fujiki, Yukio Fujiki   +10 more
doaj   +1 more source