Results 1 to 10 of about 1,139 (98)

Structure of the peroxisomal Pex1/Pex6 ATPase complex bound to a substrate [PDF]

Nature Communications, 2023
The double-ring AAA+ ATPase Pex1/Pex6 is required for peroxisomal receptor recycling and is essential for peroxisome formation. Pex1/Pex6 mutations cause severe peroxisome associated developmental disorders.
Maximilian Rüttermann, Michelle Koci, Pascal Lill, Ermis Dionysios Geladas, Farnusch Kaschani, Björn Udo Klink, Ralf Erdmann, Christos Gatsogiannis   +7 more
doaj   +2 more sources

Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis

Cells, 2022
The AAA-ATPases Pex1 and Pex6 are required for the formation and maintenance of peroxisomes, membrane-bound organelles that harbor enzymes for specialized metabolism.
Ryan Judy, Connor Sheedy
exaly   +3 more sources

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations. [PDF]

Clin Genet
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Diogo-Cavassana S, Alencar-Coutinho D, Abreu-Oberhuber R, Paramo-Neto ME, Oiticica J, Bento RF, Batissoco AC, Lezirovitz K.   +7 more
europepmc   +2 more sources

Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation [PDF]

International Dental Journal
: Biallelic variants in the PEX1 and PEX6 genes are implicated in Heimler syndrome, which is characterized by amelogenesis imperfecta, sensorineural hearing loss, retinitis pigmentosa, and nail defects.
Piranit N. Kantaputra, Atitaya Apivatthakakul, Massupa Kaewgahya, Sissades Tongsima, Chumpol Ngamphiw, Thanapat Sastraruji, Panwarit Sukantamala, Bruce M. Carlson, Katsushige Kawasaki, James R. Ketudat Cairns, Nuntigar Sonsuwan, Atsushi Ohazama   +11 more
doaj   +2 more sources

PEX6 Mutations in Peroxisomal Biogenesis Disorders

Ophthalmology Science, 2021
Purpose: Peroxisomal biogenesis disorders (PBDs) represent a spectrum of conditions that result in vision loss, sensorineural hearing loss, neurologic dysfunction, and other abnormalities resulting from aberrant peroxisomal function caused by mutations ...
Matthew Benson, Alina Radziwon
exaly   +3 more sources

Integrative transcriptomic and genomic insights into diabetic kidney disease: evidence from multi-omics analysis and experimental validation [PDF]

Renal Failure
Diabetic kidney disease (DKD) remains a critical challenge in diabetes management, necessitating a deep understanding of its molecular underpinnings for better diagnosis and treatment strategies.
Shengnan Chen, Lei Chen, Ruiqing Dong, Xuna Kou, Chenwen Luo, Ning Gao, Meng Zhao, Mingqian He, Bingyin Shi, Hongli Jiang, Wei Qiang   +10 more
doaj   +2 more sources

Unraveling : insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations [PDF]

Annals of Pediatric Endocrinology & Metabolism
Peroxisome biogenesis disorders (PBDs) are a genetically heterogeneous group of metabolic diseases caused by impaired peroxisome assembly and function.
Najmeh Ahangari, Bita Barazandeh Shirvan, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, Narges Hashemi, Shima Imannezhad, Hashem Lashgari Kalat, Farnoosh Ebrahimzadeh, Javad Akhondian, Mehran Beiraghi Toosi   +9 more
doaj   +2 more sources

Regulator of G-Protein Signalling Protein AaRgs2 Negatively Regulates Appressorium-Like Formation of Alternaria alternata Induced by Pear Cutin Monomer via the AaRgs2-AaGα1-AaAC Module. [PDF]

Mol Plant Pathol
AaRgs2 negatively regulates appressorium‐like formation of A. alternata induced by pear cutin monomer via the AaRgs2‐AaGα1‐AaAC module. ABSTRACT Pathogenic fungi have developed complex and specific infection strategies to invade host tissues successfully.
Zhang M, Nan Y, Li Y, Bi Y, Prusky DB.
europepmc   +2 more sources

Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report [PDF]

BMC Pediatrics
Background Zellweger spectrum disorders (ZSDs) are a group of peroxisome biogenesis disorders (PBDs) with different variants in the PEX genes. The main biochemical marker for screening peroxisomal disorders is very long-chain fatty acids (VLCFAs).
Bita Barazandeh Shirvan, Najmeh Ahangari, Razie Rezaie, Parvaneh Layegh, Ehsan Ghayoor Karimiani, Narges Hashemi, Mehran Beiraghi Toosi   +6 more
doaj   +2 more sources

Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study [PDF]

BMC Medical Genomics
Peroxisomal disorders are a group of hereditary metabolic disorders that happen when peroxisomes are defective. Around 80% of individuals affected by peroxisomal disorders are classified within the spectrum of Zellweger syndromes with autosomal recessive
Sheyda Khalilian, Mohadeseh Fathi, Sanaz Jamshidi, Rasoul Madannejad, Arezou Sayad, Soudeh Ghafouri-Fard, Mohammad Miryounesi   +6 more
doaj   +2 more sources