Results 61 to 70 of about 1,816 (142)

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype

Journal of Inherited Metabolic Disease, 1999
Peroxisomes are single, membrane-bound organelles present in nearly all eukaryotic cells (Lazarow and Moser 1995). The polypeptide composition of the peroxisomal membrane is distinct from that of other organelles. The peroxisome matrix has more than 50 enzymes involved in numerous metabolic pathways.
Gärtner, Jutta, Preuss, N., Brosius, U., Biermanns, M.   +3 more
openaire   +3 more sources

Preferencias Psicoterapéuticas: Versión argentina de las escalas PEX-1 y C-NIP-v1.1

Revista de Psicología, 2022
Se buscó adaptar al contexto argentino dos escalas que evalúan preferencias psicoterapéuticas: el Inventario de Preferencias de Cooper-Norcross (C-NIP-v1.1) y el Cuestionario de Preferencias y Experiencias de Psicoterapia para el Paciente (PEX-1). Ambas
Pablo Rafael Santangelo, Karina Conde
doaj  

Pex26-Pex6-Pex1 overlaps with the disease complex No. 335.

, 2013
This figure showed the Pex26-Pex6-Pex1 complex (surrounded by green line) which covered a benchmark disease complex (surrounded by red dash line) that consisted of proteins O43933 (PEX 1) and Q13608 (PEX 6).
Peng Yang (296696), Xiaoli Li (279663), Min Wu (41570), Chee-Keong Kwoh (279664), See-Kiong Ng (43121)   +4 more
core   +1 more source

A pex1 Missense Mutation Improves Peroxisome Function in a Subset of Arabidopsis pex6 Mutants Without Restoring pex5 Recycling [PDF]

, 2018
Peroxisomes are eukaryotic organelles critical for plant and human development because they house essential metabolic functions, such as fatty acid β-oxidation.
Zolman, Bethany, Bonnie Bartel, Zolman, Bethany K., Burks, Kendall, Charles H. Danan, Kim L. Gonzalez, Burks, Kendall H., Gonzalez, Kim, Sarah E. Ratzel, Ratzel, Sarah, Wages, Jeanne, Jeanne M. Wages, Bartel, Bonnie, Ratzel, Sarah E., Kendall H. Burks, Bethany K. Zolman, Wages, Jeanne M., Danan, Charles, Danan, Charles H., Gonzalez, Kim L.   +19 more
core   +1 more source

Structures of the double‐ring AAA ATPase Pex1–Pex6 involved in peroxisome biogenesis [PDF]

The FEBS Journal, 2015
The Pex1 and Pex6 proteins are members of the AAA family of ATPases and are involved in peroxisome biogenesis. Recently, cryo‐electron microscopy structures of the Pex1–Pex6 complex in different nucleotide states have been determined. This Structural Snapshot describes the structural features of the complex and their implications for its function, as ...
Dongyan, Tan, Neil B, Blok, Tom A, Rapoport, Thomas, Walz   +3 more
openaire   +2 more sources

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. [PDF]

, 2016
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.
Sefiani, Abdelaziz, Jaouad, Imane Cherkaoui, Elalloussi, Mustapha, Ratbi, Ilham, Newman, William; id_orcid, Alsheqaih, Nada, Elorch, Hamza, Lyahyai, Jaber, Berraho, Amina   +8 more
core   +1 more source

Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms

, 2005
Zellweger syndrome and its milder variants--neonatal adrenoleukodystrophy and infantile Refsum disease--comprise a clinical continuum of diseases referred to as the Zellweger spectrum.
B. Leane, Pamela, C. Paton, Barbara, Maxwell, Megan, Crane, Denis   +3 more
core  

Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families

Annals of Medicine
Background Peroxisome biogenesis disorders (PBD) affect multiple organ systems. It is characterized by neurological dysfunction, hypotonia, ocular anomalies, craniofacial abnormalities, and absence of peroxisomes in fibroblasts.
Abdulfatah M. Alayoubi, Ambreen Ijaz, Abdul Wali, Jamil A. Hashmi, Azizah Alharbi, Sulman Basit   +5 more
doaj   +1 more source

PPARgamma dependent PEX11beta counteracts the suppressive role of SIRT1 on neural differentiation of HESCs.

PLoS ONE
The membrane peroxisomal proteins PEX11, play a crucial role in peroxisome proliferation by regulating elongation, membrane constriction, and fission of pre-existing peroxisomes.
Maryam Esmaeili, Mohammad Hossein Nasr-Esfahani, Alireza Shoaraye Nejati, Zahra Safaeinejad, Atefeh Atefi, Timothy L Megraw, Kamran Ghaedi   +6 more
doaj   +1 more source

Uso de canabidiol como terapia adjuvante em paciente com síndrome de Zellweger: relato de caso

Medicina, 2020
Também denominada síndrome cerebrohepatorenal, a síndrome de Zellweger é uma doença autossômica recessiva rara, pertencente ao espectro de erros inatos do metabolismo que afetam os peroxissomos.
Samilly Oliveira, Elias Machado, Fabricio Fóla, Zumira Aparecida Carneiro, Charles Marques Lourenço   +4 more
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