NovelPEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference24 articles.
1. Sequence analysis of the AAA protein family
2. Identification of a commonPEX1mutation in Zellweger syndrome
3. Proof of “disease causing” mutation
4. The Pichia pastoris PAS4 gene encodes a ubiquitin-conjugating enzyme required for peroxisome assembly.
5. Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease
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1. Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis;Cells;2022-06-29
2. Heimler Syndrome;Advances in Experimental Medicine and Biology;2020
3. Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex;International Journal of Molecular Sciences;2019-08-01
4. Zellweger spectrum disorder patient–derived fibroblasts with the PEX1‐Gly843Asp allele recover peroxisome functions in response to flavonoids;Journal of Cellular Biochemistry;2018-10-26
5. The PEX1 ATPase Stabilizes PEX6 and Plays Essential Roles in Peroxisome Biology;Plant Physiology;2017-06-09
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