Results 31 to 40 of about 1,816 (142)

Drosophila models uncover substrate channeling effects on phospholipids and sphingolipids in peroxisomal biogenesis disorders. [PDF]

PLoS ONE
Peroxisomal Biogenesis Disorders Zellweger Spectrum (PBD-ZSD) disorders are a group of autosomal recessive defects in peroxisome formation that produce a multi-systemic disease presenting at birth or in childhood. Well documented clinical biomarkers such
Michael F Wangler, Yu-Hsin Chao, Mary Roth, Ruth Welti, James A McNew   +4 more
doaj   +2 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

Isolation of Penicillium chrysogenum PEX1 and PEX6 encoding AAA proteins involved in peroxisome biogenesis [PDF]

Applied Microbiology and Biotechnology, 2000
In Penicillium chrysogenum, key enzymes involved in the production of penicillin reside in peroxisomes. As a first step to understand the role of these organelles in penicillin biosynthesis, we set out to isolate the genes involved in peroxisome ...
Veenhuis, M, Kiel, J.A.K.W.,, Bovenberg, R.A.L.,, Kiel, JAKW, Hilbrands, R.E.,, Bovenberg, RAL, Veenhuis, M.,, Hilbrands, RE   +7 more
core   +5 more sources

The Genetics of 241 Fetuses With Talipes Equinovarus: A 8‐Year Monocentric Retrospective Study [PDF]

Molecular Genetics & Genomic Medicine
Objective This study aims to investigate the utility of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) in fetuses diagnosed with talipes equinovarus (TE), as well as to explore the genetic factors contributing to TE.
Pingshan Pan, Dongbing Huang, Jiangxuan Wei, Wei He, Peng Huang, Sheng Yi, Jing Huang, Dahua Meng, Shuyin Tan, Xinyan Li, Hongwei Wei, Linlin Wang   +11 more
doaj   +2 more sources

Regulation of pexophagy by a novel TBK1-MARCHF7-PXMP4-NBR1 axis in PEX1-depleted HeLa cells [PDF]

Autophagy
Dong-Hyung Cho, Yonghwan Kim, Na Yeon Park   +2 more
exaly   +2 more sources

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

Frontiers in Cell and Developmental Biology, 2021
Peroxisome biogenesis disorders within the Zellweger spectrum (PBD-ZSDs) are most frequently associated with the c.2528G>A (p.G843D) mutation in the PEX1 gene (PEX1-G843D), which results in impaired import of peroxisomal matrix proteins and ...
Femke C. C. Klouwer, Femke C. C. Klouwer, Kim D. Falkenberg, Rob Ofman, Janet Koster, Démi van Gent, Sacha Ferdinandusse, Ronald J. A. Wanders, Hans R. Waterham   +8 more
doaj   +1 more source

Yeast pex1 cells contain peroxisomal ghosts that import matrix proteins upon reintroduction of Pex1 [PDF]

Journal of Cell Biology, 2015
Pex1 and Pex6 are two AAA-ATPases that play a crucial role in peroxisome biogenesis. We have characterized the ultrastructure of the Saccharomyces cerevisiae peroxisome-deficient mutants pex1 and pex6 by various high-resolution electron microscopy techniques.
Knoops, Kèvin, de Boer, Rinse, Kram, Anita, van der Klei, Ida J   +3 more
openaire   +2 more sources

Zebrafish PEX1 Is Required for the Generation of GABAergic Neuron in p3 Domain. [PDF]

Dev Reprod
Maintenance of neural progenitors requires Notch signaling in vertebrate development. Previous study has shown that Jagged2-mediated Notch signaling maintains proliferating neural progenitors in the ventral spinal cord. However, components for Jagged-mediated signaling remain poorly defined during late neurogenesis.
Ryu JH, Kim M, Kim A, Ro H, Kim SH, Yeo SY.   +5 more
europepmc   +3 more sources

Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review

Frontiers in Pediatrics, 2021
Zellweger spectrum disorder (ZSD) is a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome formation and attributable to mutations in the PEX gene family.
Kai Chen, Na Zhang, Jing-Bo Shao, Hong Li, Jie Li, Jia-Ming Xi, Wu-Hen Xu, Hui Jiang   +7 more
doaj   +1 more source

OsPEX1, a leucine-rich repeat extensin protein, functions in the regulation of caryopsis development and quality in rice

Crop Journal, 2022
Rice caryopses are enclosed by outer glumes. The size and dimension of the outer glume are the main determinants of caryopsis size. However, it is unclear whether caryopsis development is completely dependent on the size of the glume, or whether it can ...
Xin Luan, Shanwen Ke, Shuchun Liu, Guojian Tang, Dahui Huang, Minyi Wei, Yuexiong Zhang, Gang Qin, Xiang-Qian Zhang   +8 more
doaj   +1 more source