Results 131 to 140 of about 1,386 (148)

Purification of a Recombinant Human PEX1/PEX6 AAA+ ATPase Complex from HEK293TT Cells

Methods in Molecular Biology, 2023
The heteromeric complex of the two AAA+ ATPases PEX1 and PEX6 is involved in the export of the monoubiquitinated import receptor PEX5 from the peroxisomal membrane. Mutations in this complex make up for over 60% of the patients with Peroxisomal Biogenesis Disorders.
Gabriele Dodt
exaly   +3 more sources

Spectrum ofPEX6mutations in Zellweger syndrome spectrum patients

Human Mutation, 2010
The autosomal recessive Zellweger syndrome spectrum (ZSS) disorders comprise a main subgroup of the peroxisome biogenesis disorders. The ZSS disorders can be caused by mutations in any of 12 different currently identified PEX genes resulting in severe, often lethal, multi-systemic disorders. Defects in the PEX6 gene are the second most common cause for
Ebberink, Merel S., Kofster, Janet, Wanders, Ronald J. A., Waterham, Hans R.   +3 more
openaire   +2 more sources

Unique double-ring structure of the peroxisomal Pex1/Pex6 ATPase complex revealed by cryo-electron microscopy [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 2015
Significance Pex1 and Pex6 are members of the AAA family of ATPases, which contain two ATPase domains in a single polypeptide chain and form hexameric double rings. These two Pex proteins are involved in the biogenesis of peroxisomes, and mutations in them frequently cause diseases.
Ray Wang, David Baker, Tom Rapoport
exaly   +3 more sources

A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder

American Journal of Medical Genetics Part A, 2023
AbstractZellweger spectrum disorder (ZSD) is a group of autosomal recessive disorders caused by biallelic pathogenic variants in any one of the 13 PEX genes essential for peroxisomal biogenesis. We report a cohort of nine infants who presented at birth with severe neonatal features suggestive of ZSD and found to be homozygous for a variant in PEX6 ...
Carolina I. Galarreta, Karen Wong, Jason Carmichael, Jeremy Woods, Christina G. Tise, Annie D. Niehaus, Alison J. Schildt, Courtney P. Verscaj, Kristina P. Cusmano‐Ozog   +8 more
openaire   +2 more sources

#689 First report of kidney failure in PEX6-related peroxisomal disorder

Nephrology Dialysis Transplantation
Abstract Background and Aims Peroxisomes are semiautonomous subcellular organelles involved in key metabolic pathways. Biallelic pathogenic variants in any of the 14 currently known PEX proteins are responsible for a genetically heterogeneous group of multi-organ disorders named as peroxisome ...
Guillaume Buia, Xavier Zanlonghi, Marie-Pierre Audrezet, Nikola Zagorec, Elisabet Ars, Claire-Marie Dhaenens, Sylvie Odent, Emilie Cornec-Le Gall   +7 more
openaire   +1 more source

Late-Onset Zellweger Spectrum Disorder Caused by PEX6 Mutations Mimicking X-Linked Adrenoleukodystrophy

Pediatric Neurology, 2014
Zellweger spectrum disorder is an autosomal recessively inherited multisystem disorder caused by one of the 13 different PEX gene defects resulting in defective peroxisomal assembly and multiple peroxisomal enzyme deficiencies. We report a new patient with late-onset Zellweger spectrum disorder mimicking X-linked adrenoleukodystrophy.This 8.5-year-old ...
Saadet Mercimek-Mahmutoglu, Christel Tran, Stacy Hewson   +2 more
exaly   +3 more sources

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

Human mutation, 2016
Deafblindness is part of several genetic disorders. We investigated a consanguineous Egyptian family with two siblings affected by congenital hearing loss and retinal degeneration, initially diagnosed as Usher syndrome type 1. At teenage, severe enamel dysplasia, developmental delay, and microcephaly became apparent.
Maha S, Zaki, Raoul, Heller, Michaela, Thoenes, Gudrun, Nürnberg, Gabi, Stern-Schneider, Peter, Nürnberg, Srikanth, Karnati, Daniel, Swan, Ekram, Fateen, Kerstin, Nagel-Wolfrum, Mostafa I, Mostafa, Holger, Thiele, Uwe, Wolfrum, Eveline, Baumgart-Vogt, Hanno J, Bolz   +14 more
openaire   +1 more source

Identification of small molecule inhibitors of Trypanosoma PEX15– PEX6 interaction

Abstract Trypanosomatid parasites that cause life threatening tropical diseases harbor specialized essential organelles, called glycosomes. Like other peroxisome-related organelles, the biogenesis of glycosomes is mediated by proteins known as peroxins (PEX).
Lisa Hohnen, Bettina Tippler, Firat Tiris, Ralf Erdmann, Vishal C. Kalel   +4 more
openaire   +1 more source

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

Human Mutation, 2015
Maha S. Zaki, Raoul Heller, Michaela Thoenes, Gudrun Nürnberg, Gabi Stern-Schneider, Peter Nürnberg, Srikanth Karnati, Daniel Swan, Ekram Fateen, Kerstin Nagel-Wolfrum, Mostafa I. Mostafa, Holger Thiele, Uwe Wolfrum, Eveline Baumgart-Vogt, Hanno J. Bolz   +14 more
openaire   +1 more source

PEX6 Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review

Children, 2023
Dana Teodora Anton Paduraru, Popa Elena, Antoneta Dacia Petroaie   +2 more
exaly