Results 121 to 130 of about 1,386 (148)

Using the ancestral recombination graph to study the history of rare variants in founder populations. [PDF]

Am J Hum Genet
Mejia-Garcia A, Diaz-Papkovich A, Sillon G, D'Agostino D, Chong AL, Chong G, Lo KS, Baret L, Hamel N, Chapdelaine V, Foulkes WD, Taliun D, Shapiro AJ, Lettre G, Gravel S.   +14 more
europepmc   +1 more source

Direct long-read RNA sequencing uncovers functional variation affecting transcript production and RNA modifications

Réal A, Brown A, Yung GP, Borel C, Lykoskoufis N, Seebach J, Dermitzakis E, Ramisch A, Viñuela A.   +8 more
europepmc   +1 more source

Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex [PDF]

International Journal of Molecular Sciences, 2019
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.
Petra Wendler
exaly   +7 more sources

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations [PDF]

Ophthalmic Genetics, 2018
BACKGROUND/AIMS: Pigmentary retinal dystrophy and macular dystrophy have been previously reported in Heimler syndrome due to mutations in PEX1. Here we reported the ocular manifestations in Heimler syndrome due to mutations in PEX6. MATERIALS AND METHODS:
Christopher Inglehearn, Reuven Sharony
exaly   +7 more sources

A Mechanistic Perspective on PEX1 and PEX6, Two AAA+ Proteins of the Peroxisomal Protein Import Machinery [PDF]

International Journal of Molecular Sciences, 2019
In contrast to many protein translocases that use ATP or GTP hydrolysis as the driving force to transport proteins across biological membranes, the peroxisomal matrix protein import machinery relies on a regulated self-assembly mechanism for this purpose
Azevedo Je, Ana G Pedrosa, Tony Rodrigues   +2 more
exaly   +7 more sources

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder [PDF]

American Journal of Human Genetics, 2017
Zellweger spectrum disorders (ZSDs) are autosomal-recessive disorders that are caused by defects in peroxisome biogenesis due to bi-allelic mutations in any of 13 different PEX genes.
Hans Waterham, Agatha SchlÜter, M Estela Rubio-Gozalbo   +2 more
exaly   +8 more sources

Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy inSaccharomyces cerevisiae [PDF]

Autophagy, 2014
Turnover of damaged, dysfunctional, or excess organelles is critical to cellular homeostasis. We screened mutants disturbed in peroxisomal protein import, and found that a deficiency in the exportomer subunits Pex1, Pex6, and Pex15 results in enhanced ...
Motley, A.M, Nuttall, J.M, Hettema, E.H
exaly   +7 more sources

Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol [PDF]

Journal of Biological Chemistry, 2018
PEX1 and PEX6 are two members of the ATPases associated with diverse cellular activities (AAA) family and the core components of the receptor export module of the peroxisomal matrix protein import machinery.
Azevedo Je, Ana G Pedrosa, Ana Filipa Dias   +2 more
exaly   +6 more sources

Genomic structure and identification of 11 novel mutations of thePEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

Human Mutation, 1999
The PEX6 (peroxisome assembly factor-2, PAF-2) gene encodes a member of the AAA protein (ATPases associated with diverse cellular activities) family and restores peroxisome assembly in fibroblasts from peroxisome biogenesis disorder patients belonging to
Ronald Wanders, Yukio Fujiki, Nobuyuki Shimozawa   +2 more
exaly   +2 more sources