Results 41 to 50 of about 1,386 (148)
Heimler Syndrome Caused by Novel <i>PEX6</i> Variants: Clinical and Genetic Characterization in a Saudi Cohort. [PDF]
Genes (Basel)Background: Heimler syndrome (HS) is a rare autosomal recessive disorder representing the mildest end of the peroxisome biogenesis disorder spectrum. It is caused by hypomorphic mutations in peroxisomal assembly genes, most commonly PEX1 and PEX6, and is characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy. Due to
AlMoallem B.
europepmc +2 more sources
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
openaire +2 more sources
Peroxisome Function Is Required for Virulence and Survival of Fusarium graminearum
Molecular Plant-Microbe Interactions, 2012 Peroxisomes are organelles that are involved in a number of important cellular metabolic processes, including the β-oxidation of fatty acids, biosynthesis of secondary metabolites, and detoxification of reactive oxygen species (ROS).
Kyunghun Min +5 more
doaj +1 more source
Structures of the double‐ring AAA ATPase Pex1–Pex6 involved in peroxisome biogenesis [PDF]
The FEBS Journal, 2015 The Pex1 and Pex6 proteins are members of the AAA family of ATPases and are involved in peroxisome biogenesis. Recently, cryo‐electron microscopy structures of the Pex1–Pex6 complex in different nucleotide states have been determined. This Structural Snapshot describes the structural features of the complex and their implications for its function, as ...
Dongyan, Tan +3 more
openaire +2 more sources
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 +5 more
doaj +1 more source
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
doaj +1 more source
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
core +1 more source
Expanding the clinical and genetic spectrum of Heimler syndrome
Orphanet Journal of Rare Diseases, 2019 Background Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be diagnosed at all. This study aimed to
Feng-Juan Gao +11 more
doaj +1 more source
Structure and Function of p97 and Pex1/6 Type II AAA+ Complexes
Frontiers in Molecular Biosciences, 2017 Protein complexes of the Type II AAA+ (ATPases associated with diverse cellular activities) family are typically hexamers of 80–150 kDa protomers that harbor two AAA+ ATPase domains.
Paul Saffert +2 more
doaj +1 more source
A pex1 Missense Mutation Improves Peroxisome Function in a Subset of Arabidopsis pex6 Mutants Without Restoring pex5 Recycling [PDF]
, 2018 Peroxisomes are eukaryotic organelles critical for plant and human development because they house essential metabolic functions, such as fatty acid β-oxidation.
Zolman, Bethany +19 more
core +1 more source