Results 11 to 20 of about 1,816 (142)

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients [PDF]

BMC Medical Genetics, 2011
Background Mutations in PEX1 are the most common primary cause of Zellweger syndrome. In addition to exonic mutations, deletions and splice site mutations two 5' polymorphisms at c.-137 and c.-53 with a potential influence on PEX1 protein levels have ...
Thoms Sven, Grønborg Sabine, Rabenau Jana, Ohlenbusch Andreas, Rosewich Hendrik, Gärtner Jutta   +5 more
doaj   +7 more sources

The peroxisomal AAA-ATPase Pex1/Pex6 unfolds substrates by processive threading [PDF]

Nature Communications, 2018
Pex1 and Pex6 form a heterohexameric Type-2 AAA-ATPase motor whose function in peroxisomal matrix-protein import is still debated. Here, the authors combine structural, biochemical, and cell-biological approaches to show that Pex1/Pex6 is a protein ...
Brooke M. Gardner, Dominic T. Castanzo, Saikat Chowdhury, Goran Stjepanovic, Matthew S. Stefely, James H. Hurley, Gabriel C. Lander, Andreas Martin   +7 more
doaj   +6 more sources

Disorders of Peroxisome Biogenesis Due to Mutations in PEX1: Phenotypes and PEX1 Protein Levels [PDF]

The American Journal of Human Genetics, 2001
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD) are clinically overlapping syndromes, collectively called “peroxisome biogenesis disorders” (PBDs), with clinical features being most severe in ZS and least
Gootjes, Jeannette, Dodt, Gabriele, Waterham, H. R., Barth, P. G., Waterham, Hans R., Claudia Walter, Mooijer, Petra A., Dodt, G., Epplen, J.T., Wanders, R.J.A., Kunau, Wolf-H., Barth, P.G., Christina Klein, Jörg T. Epplen, Klein, C., Ronald J.A. Wanders, Epplen, J. T., Klein, Christina, Portsteffen, H., Kunau, W. H., Wolf-H. Kunau, Waterham, H.R., Portsteffen, Herma, Barth, Peter G., Petra A. Mooijer, Kunau, W-H., Jeannette Gootjes, Mooijer, P.A.W., Gabriele Dodt, Gootjes, J., Mooijer, P. A., Herma Portsteffen, Walter, C., Epplen, Jörg T., Peter G. Barth, Wanders, Ronald J.A., Walter, Claudia, Wanders, R. J., Hans R. Waterham   +38 more
core   +8 more sources

Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations [PDF]

Case Reports in Pediatrics, 2016
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders.
Mehmet Gunduz, Ozlem Unal
doaj   +6 more sources

Spectrum of PEX1 and PEX6 variants in Heimler syndrome [PDF]

European Journal of Human Genetics, 2016
Heimler syndrome (HS) consists of recessively inherited sensorineural hearing loss, amelogenesis imperfecta (AI) and nail abnormalities, with or without visual defects.
Poulter, JA, Mighell, Alan J, Susan Price, Ben-Yosef, T, Mighell, AJ, James A Poulter, Reuven Sharony, Shore, RC, Sharony, Reuven, Newman, William; id_orcid, Ben-Yosef, Tamar, Levin, AV, Roger C Shore, Price, Susan, Newman, WG, Brookes, SJ, Claire E L Smith, Capasso, JE, Price, S, Smith, CEL, Jenina E Capasso, Steven J Brookes, William G Newman, Alex V Levin, Chris F Inglehearn, Sharony, R, Brookes, Steven J, Poulter, James A, Inglehearn, Chris F, Inglehearn, CF, Tamar Ben-Yosef, Alan J Mighell, Capasso, Jenina E, Shore, Roger C, Levin, Alex V   +34 more
core   +5 more sources

Molecular snapshots of the Pex1/6 AAA + complex in action [PDF]

Nature Communications, 2015
The peroxisomal proteins Pex1 and Pex6 form a heterohexameric type II AAA+ ATPase complex, which fuels essential protein transport across peroxisomal membranes. Mutations in either ATPase in humans can lead to severe peroxisomal disorders and early death.
Wendler, Petra, Saffian, Delia, Erdmann, Ralf, Grimm, Immanuel, Girzalsky, Wolfgang, Ciniawsky, Susanne   +5 more
core   +5 more sources

The PEX1 ATPase Stabilizes PEX6 and Plays Essential Roles in Peroxisome Biology [PDF]

Plant Physiology, 2017
A variety of metabolic pathways are sequestered in peroxisomes, conserved organelles that are essential for human and plant survival. Peroxin (PEX) proteins generate and maintain peroxisomes. The PEX1 ATPase facilitates recycling of the peroxisome matrix
Meredith J. Ventura, Rinaldi, Mauro A., Bonnie Bartel, Mauro A. Rinaldi, Wendell A. Fleming, Kim L. Gonzalez, Ashish B. Patel, Jaeseok Park, Fleming, Wendell A., Park, Jaeseok, Bartel, Bonnie, Gonzalez, Kim L., Ventura, Meredith J., Patel, Ashish B.   +13 more
core   +5 more sources

The Pex1/Pex6 Complex Is a Heterohexameric AAA+ Motor with Alternating and Highly Coordinated Subunits [PDF]

Journal of Molecular Biology, 2015
Pex1 and Pex6 are Type-2 AAA+ ATPases required for the de novo biogenesis of peroxisomes. Mutations in Pex1 and Pex6 account for the majority of the most severe forms of peroxisome biogenesis disorders in humans.
Chowdhury, Saikat, Gardner, Brooke M, Martin, Andreas, Lander, Gabriel C   +3 more
core   +6 more sources

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations [PDF]

Journal of Medical Genetics, 2005
Objective: To analyse the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum.
Rosewich, Hendrik, Ohlenbusch, Andreas, Gärtner, Jutta   +2 more
core   +4 more sources

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders [PDF]

Human Genome Variation, 2017
International audienceMutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous PEX1 mutation (p.Leu1026Pro, c.3077T>C) in ...
Amale Bousfiha, Zied Riahi, Rouba, Hassan, Petit, Christine, Khalid Snoussi, Snoussi, Khalid, Charoute, Hicham, Bakhchane, Amina, Hicham Charoute, Bousfiha, Amale, Hassan Rouba, Bonnet, Crystel, Riahi, Zied, Christine Petit, Barakat, Abdelhamid, Abdelhamid Barakat, Amina Bakhchane, Crystel Bonnet   +17 more
core   +4 more sources