Results 11 to 20 of about 1,386 (148)

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

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

Children, 2023
The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental
Ana-Maria Slanina, Adorata-Elena Coman, Dana-Teodora Anton-Păduraru, Elena Popa, Carmen-Liliana Barbacariu, Otilia Novac, Antoneta Dacia Petroaie, Agnes-Iacinta Bacușcă, Mihaela Manole, Adriana Cosmescu   +9 more
doaj   +4 more sources

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population [PDF]

BMC Medical Genetics, 2012
Background Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains ...
Levesque Sebastien, Morin Charles, Guay Simon-Pierre, Villeneuve Josee, Marquis Pascale, Yik Wing, Jiralerspong Sarn, Bouchard Luigi, Steinberg Steven, Hacia Joseph G, Dewar Ken, Braverman Nancy E   +11 more
doaj   +4 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

The Effect of a PEX6 Mutation on Peroxisome Function [PDF]

, 2021
Purpose. Peroxisomal biogenesis disorders (PBDs) represent a group of recessive conditions that cause severe vision loss, sensorineural hearing loss, neurologic dysfunction, and other systemic abnormalities due to abnormal peroxisomal function ...
Benson, Matthew David
core   +2 more sources

Identification and characterisation of PEX6 orthologues from plants [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2001
The sunflower (Helianthus annuus) orthologue of PEX6, an AAA ATPase essential for the biogenesis of peroxisomes in yeasts and mammals, was isolated. HaPex6p is immunologically related to Pichia pastoris Pex6p.
Thomas, Josie E, Alison Baker, Kaplan, Claude P, Charlton, Wayne L, Baker, Alison, Claude P Kaplan, Josie E Thomas, Wayne L Charlton   +7 more
core   +3 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

Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1 [PDF]

Pediatric Research, 2000
Peroxisome biogenesis disorders (PBD), including Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease, are a group of genetically heterogeneous autosomal-recessive diseases caused by mutations in PEX genes that encode peroxins,
Osumi, T., Naomi Kondo, Imamura, A., Yasuyuki Suzuki, Fujiki, Y., Nobuyuki Shimozawa, Zhang, Z., Zhongyi Zhang, Ronald J A Wanders, Atsushi Imamura, Toshiro Tsukamoto, Suzuki, Y., Tadao Orii, Shimozawa, N., Takashi Osumi, Kondo, N., Yukio Fujiki, Orii, T., Wanders, R. J., Tsukamoto, T.   +19 more
core   +3 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

Heimler Syndrome is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 [PDF]

The American Journal of Human Genetics, 2015
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities and occasional or late onset retinal pigmentation.
Cooper, N, Guaoua, Soukaina, Roberts, Neil; id_orcid, Tischkowitz, Marc, Al-Sheqaih, N, Poulter, JA, Waterham, HR, Smith, Claire E. L., Chandler, Kate E., Heimler, Audrey, Ong, Kai Ren, Mighell, AJ, Williams, Simon; id_orcid, Chandler, KE, Urquhart, Jill E., Lynch, S, Waterham, Hans R., Vandeweyer, Geert, Ong, KR, Newman, WG, Mighell, Alan J., Smith, CEL, Elcock, Claire, Ingleheam, Christopher F., Ferdinandusse, Sacha, Ratbi, I, Williams, Simon G., Al-Sheqaih, Nada, Poulter, James A, Black, Graeme C., Vandeweyer, G, Newman, William G., Tischkowitz, M, Inglehearn, Christopher F., Inglehearn, CF, Ratbi, Ilham, Roberts, NA, Mironov, Aleksandr A., Guaoua, S, Mironov, AA, Davies, Sally J., Fryer, A, Van Camp, G, Waterham, Hans R, Sommen, Manou, Davies, Sally J, Mironov, Aleksandr; id_orcid, Smith, Claire E L, Mighell, Alan J, Heimler, A, Fryer, Alan, Falkenberg, KD, Falkenberg, Kim D., Smith, Claire E.L., Lynch, Sally-Ann, Ramdi, Hind, Newman, William; id_orcid, Ferdinandusse, S, Elcock, C, Sefiani, A, Roberts, Neil A., Falkenberg, Kim D, Sefiani, Abdelaziz, Davies, SJ, Black, Graeme, Cooper, Nicola, Black, GC, Poulter, James A., Urquhart, Jill, Ecock, Claire, Sommen, M, El Alloussi, Mustapha, Urquhart, JE, El Alloussi, M, Williams, SJ, Van Camp, Guy, Inglehearn, Christopher F, Ramdi, H   +77 more
core   +8 more sources