Results 51 to 60 of about 1,816 (142)
Genetic diagnosis of fetal microcephaly at a single tertiary center in China
Frontiers in Genetics, 2023 Background: Microcephaly is common in patients with neuropsychiatric problems, and it is usually closely related to genetic causes. However, studies on chromosomal abnormalities and single-gene disorders associated with fetal microcephaly are limited ...
You Wang +18 more
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Plants, 2022 Pharmacological treatment of pain often causes undesirable effects, so it is necessary to look for natural, safe, and effective alternatives to alleviate painful behavior.
José Antonio Guerrero-Solano +8 more
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Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders [PDF]
Human Molecular Genetics, 1998 The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), are autosomal recessive diseases caused by deficiency of peroxisome assembly as well as malfunction of peroxisomes, where >10 genotypes have been reported.
A, Imamura +9 more
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Molecular Genetics and Metabolism Reports, 2020 Peroxisomal biogenesis disorders (PBD) are rare autosomal recessive disorders with various degrees of severity caused by hypomorphic mutations in 13 different peroxin (PEX) genes.
Maria Rosaria Barillari +13 more
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Anaerobic peroxisomes in Entamoeba histolytica metabolize myo-inositol.
PLoS Pathogens, 2021 Entamoeba histolytica is believed to be devoid of peroxisomes, like most anaerobic protists. In this work, we provided the first evidence that peroxisomes are present in E.
Zdeněk Verner +13 more
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A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders
Disease Models & Mechanisms, 2011 SUMMARY Human peroxisome biogenesis disorders are lethal genetic diseases in which abnormal peroxisome assembly compromises overall peroxisome and cellular function.
Fred D. Mast +5 more
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The Pex6 N1 domain is required for Pex15 binding and proper assembly with Pex1
, 2023 Abstract The heterohexameric AAA-ATPase Pex1/Pex6 is essential for the formation and maintenance of peroxisomes. Pex1/Pex6, similar to other AAA-ATPases, uses the energy from ATP hydrolysis to mechanically thread substrate proteins through its central pore, thereby unfolding them.
Bashir A. Ali +9 more
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Structural mapping of missense mutations in the Pex1/Pex6 complex
, 2021 Peroxisome biogenesis disorders (PBDs) are nontreatable hereditary diseases with a broad range of severity. Approximately 65% of patients are affected by mutations in the peroxins Pex1 and Pex6.
Wendler, Petra (Prof. Dr.) +1 more
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PEX1 Mutations in Australasian Patients with Disorders of Peroxisome Biogenesis
, 2004 The peroxisome is a subcellular organelle that carries out a diverse range of metabolic functions, including the b-oxidation of very long chain fatty acids, the breakdown of peroxide and the a-oxidation of fatty acids.
Maxwell, Megan Amanda
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Zellweger Syndrome with Novel PEX1 Variants and Unusual Periventricular Leukomalacia in a Term Infant: A Case Report [PDF]
Journal of Clinical and Diagnostic ResearchZellweger syndrome is a rare disorder due to mutations in PEX genes, resulting in defective peroxisome biogenesis and multi-systemic features. This is a case of a male infant born at term via caesarean section due to breech presentation, who experienced ...
Rachana Mahadeva Prasad +4 more
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