Results 1 to 10 of about 1,353,029 (249)

A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders [PDF]

Disease Models & Mechanisms, 2011
SUMMARY Human peroxisome biogenesis disorders are lethal genetic diseases in which abnormal peroxisome assembly compromises overall peroxisome and cellular function.
Fred D. Mast, Jing Li, Maninder K. Virk, Sarah C. Hughes, Andrew J. Simmonds, Richard A. Rachubinski   +5 more
doaj   +4 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   +3 more sources

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report [PDF]

BMC Pediatrics
Introduction Peroxisome biogenesis disorders (PBDs) are rare autosomal recessive neurodegenerative diseases caused by variants in Peroxin (PEX) genes, leading to defective peroxisome assembly and multisystem dysfunction.
Abdelrahim A. Sadek, Mohammed A. Aladawy, Khaled Hassan, Tarek M. M. Mansour, Mohamed Naser, Mohamed M. Elmoursy, Sohieb Hedewy, Ahmed Hagag, Kawashty Ragab Mohamed, Elsayed Abdelkreem   +9 more
doaj   +2 more sources

A mitochondria-driven quality control mechanism for peroxisomal membrane proteins [PDF]

Nature Communications
Peroxisomes are essential organelles involved in lipid and reactive oxygen species metabolism, and their function requires proper targeting of peroxisomal membrane proteins (PMPs).
Sarin Segev-Nakar, Itay Koren
doaj   +2 more sources

Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders. [PDF]

PLoS ONE
The peroxisome biogenesis disorders (PBDs) are a group of rare inherited autosomal recessive diseases characterized by motor and cognitive neurological dysfunction, hypotonia, seizures, feeding difficulties, retinopathy, sensorineural hearing loss ...
Xiangjun Huang, Xinyue Deng, Xiong Deng, Hongbo Xu, Hao Deng, Lamei Yuan   +5 more
doaj   +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

What Peroxisomes (Don’t) do to Mitochondria [PDF]

Contact
Mitochondria and peroxisomes have long been recognized as interconnected. More than half a century ago it was observed that both types of cell organelles exhibit defects in peroxisome biogenesis disorders.
Margret H. Bülow, Sven Thoms
doaj   +2 more sources

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders [PDF]

Autophagy, 2017
Peter K Kim, John Brumell, Ann Moser
exaly   +2 more sources

Pexophagy is responsible for 65% of cases of peroxisome biogenesis disorders [PDF]

Autophagy, 2017
Taras Y Nazarko
exaly   +2 more sources

Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders [PDF]

Disease Models & Mechanisms
Vanessa A. Gomez, Oguz Kanca, Sharayu V. Jangam, Saurabh Srivastav, Jonathan C. Andrews, Michael F. Wangler   +5 more
doaj   +2 more sources