Results 11 to 20 of about 1,161,477 (260)

Peroxisome biogenesis disorders [PDF]

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   +3 more sources

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. [PDF]

Orphanet J Rare Dis, 2013
Zellweger spectrum disorders (ZSDs) are multisystem genetic disorders caused by a lack of functional peroxisomes, due to mutations in one of the PEX genes, encoding proteins involved in peroxisome biogenesis.
Berendse K, Ebberink MS, Ijlst L, Poll-The BT, Wanders RJ, Waterham HR.   +5 more
europepmc   +2 more sources

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

Stop Codon Context-Specific Induction of Translational Readthrough

Biomolecules, 2021
Premature termination codon (PTC) mutations account for approximately 10% of pathogenic variants in monogenic diseases. Stimulation of translational readthrough, also known as stop codon suppression, using translational readthrough-inducing drugs (TRIDs)
Mirco Schilff, Yelena Sargsyan, Julia Hofhuis, Sven Thoms   +3 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

Cochlear implantation and audiological findings in a child with Zellweger spectrum disorder

Otolaryngology Case Reports, 2023
Peroxisome Biogenesis Disorders in the Zellweger Spectrum (PBD-ZSD) are autosomal recessive disorders characterized by defects in functional peroxisomes.
Amit Walia, Amy Lynn Birath, Craig A. Buchman   +2 more
doaj   +1 more source

Salvianolic acid A promotes mitochondrial biogenesis and mitochondrial function in 3T3-L1 adipocytes through regulation of the AMPK-PGC1α signalling pathway

Adipocyte, 2022
Mitochondrial dysfunction is associated with insulin resistance and type 2 diabetes (T2DM). Decreased mitochondrial abundance and function were found in white adipose tissue (WAT) of T2DM patients.
Jialin Sun, Ping Leng, Xiao Li, Qie Guo, Jun Zhao, Yu Liang, Xiaolei Zhang, Xue Yang, Jing Li   +8 more
doaj   +1 more source

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Orphanet Journal of Rare Diseases, 2022
Background Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations.
Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro   +34 more
doaj   +1 more source

DNA Methylation of PGC-1α Is Associated With Elevated mtDNA Copy Number and Altered Urinary Metabolites in Autism Spectrum Disorder

Frontiers in Cell and Developmental Biology, 2021
Autism spectrum disorder (ASD) is a complex disorder that is underpinned by numerous dysregulated biological pathways, including pathways that affect mitochondrial function. Epigenetic mechanisms contribute to this dysregulation and DNA methylation is an
Sophia Bam, Erin Buchanan, Caitlyn Mahony, Colleen O’Ryan   +3 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