Results 21 to 30 of about 1,816 (142)

Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder [PDF]

Journal of Lipid Research
Zellweger Spectrum Disorder (ZSD) is caused by defects in PEX genes, whose proteins are required for peroxisome assembly and function. Peroxisome dysfunction in ZSD causes multisystem effects, with progressive retinal degeneration (RD) among the most ...
Samy Omri, Catherine Argyriou, Rachel S. Pryce, Erminia Di Pietro, Pierre Chaurand, Nancy Braverman   +5 more
doaj   +2 more sources

Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study [PDF]

BMC Medical Genomics
Peroxisomal disorders are a group of hereditary metabolic disorders that happen when peroxisomes are defective. Around 80% of individuals affected by peroxisomal disorders are classified within the spectrum of Zellweger syndromes with autosomal recessive
Sheyda Khalilian, Mohadeseh Fathi, Sanaz Jamshidi, Rasoul Madannejad, Arezou Sayad, Soudeh Ghafouri-Fard, Mohammad Miryounesi   +6 more
doaj   +2 more sources

Reevaluation of the role of Pex1 and dynamin-related proteins in peroxisome membrane biogenesis [PDF]

Journal of Cell Biology, 2015
A recent model for peroxisome biogenesis postulates that peroxisomes form de novo continuously in wild-type cells by heterotypic fusion of endoplasmic reticulum–derived vesicles containing distinct sets of peroxisomal membrane proteins.
Alison M. Motley, Paul C. Galvin, Lakhan Ekal, Motley, A. M., Nuttall, J. M., Galvin, P. C., James M. Nuttall, Hettema, E. H., Ewald H. Hettema, Ekal, L.   +9 more
core   +5 more sources

Structural and functional insights into the mechanism of the Pex1/6 complex [PDF]

, 2015
Peroxisomes are highly dynamic organelles of eukaryotic cells, carrying out essential oxidative metabolic processes. These organelles scavenge reactive oxygen species such as hydrogen peroxide (H2O2) and catabolise fatty acids, which are particular ...
Ciniawsky, Susanne
core   +3 more sources

Molecular interactions of the human PEX1/PEX6 AAA+ ATPase complex and in vivo mRNA editing of the PEX1-G843D mutation [PDF]

Peroxisomes, ubiquitous and highly dynamic organelles in eukaryotic cells, are crucial for human health and development. They are needed for oxidative metabolic processes, including the breakdown of fatty acids and the regulation of the cellular redox ...
Pandey, Saroj
core   +4 more sources

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants [PDF]

Journal of Applied Genetics, 2020
Zellweger spectrum disorders (ZSD) constitute a group of rare autosomal recessive disorders characterized by a defect in peroxisome biogenesis due to mutations in one of 13 PEX genes.
Stawiński, Piotr, Rydzanicz, Małgorzata, Wanders, Ronald J. A., Wypchło, Maria, Stradomska, Teresa Joanna, Vaz, Frederic M., Lipiński, Patryk, Jurkiewicz, Elżbieta, Ferdinandusse, Sacha, Tylki-Szymańska, Anna, Płoski, Rafał   +10 more
core   +3 more sources

Distinct and Shared Molecular Mechanisms in Pediatric Antrochoanal Polyps and Chronic Rhinosinusitis with Nasal Polyps: A Proteomic and Metabolomic Integrative Analysis [PDF]

Journal of Inflammation Research
Yong-Chao Chen, Xin Wang, Yan-Wen Pan, Yi-Shu Teng, Hong-Guang Pan Department of Otorhinolaryngology, Shenzhen Children’s Hospital, Shenzhen, Guangdong, People’s Republic of ChinaCorrespondence: Hong-Guang Pan, Department of Otorhinolaryngology, Shenzhen
Chen YC, Wang X, Pan YW, Teng YS, Pan HG
doaj   +2 more sources

Pex1, a pollen-specific gene with an extensin-like domain. [PDF]

Proceedings of the National Academy of Sciences, 1995
We report here the identification of a pollen-specific gene from Zea mays that contains multiple Ser-(Pro)n repeats, the motif found in the cell wall-associated extensins.
Lowrey, K. B., Bedinger, P. A., Rubinstein, A. L., Broadwater, A. H.   +3 more
core   +4 more sources

Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder [PDF]

JIMD Reports
We report the case of an 11‐year‐old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum disorder and was successfully treated with liver transplantation.
Riya Mary Tharakan, Sanjay Rajwal, Bernd C. Schwahn   +2 more
doaj   +2 more sources

Genetic architecture and prognostic significance of suspected fetal microcephaly: evidence from prenatal exome sequencing in a large prospective cohort [PDF]

Human Genomics
Background Fetal microcephaly (FMIC) is a neurodevelopmental disorder with heterogeneous etiologies and uncertain prenatal prognosis. Discrepancies between prenatal and postnatal head circumference (HC) measurements may confound ultrasound-based ...
Fang Fu, Xing Wei, Chen Chen, Ruibin Huang, Xinyue Tan, Hang Zhou, Ru Li, Qiuxia Yu, Fucheng Li, Yongling Zhang, Lushan Li, Xiangyi Jing, Dongzhi Li, Luming Sun, Can Liao   +14 more
doaj   +2 more sources