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Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder. [PDF]

JIMD Rep
Tharakan RM, Rajwal S, Schwahn BC.
europepmc   +1 more source

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source

Restoring metabolic flexibility: targeting organelle interaction networks in the pathogenesis and therapy of MASLD. [PDF]

Front Cell Dev Biol
Liu Y, Wang Y, Zhou J, Li H, Liu C, Zhong B, Liu J, Liu L, Zhang L, Sun L.   +9 more
europepmc   +1 more source

Targeting nuclear receptors in muscular dystrophies and regenerative myogenesis. [PDF]

Front Cell Dev Biol
Mann E, Vu H, Narkar VA, Liu Y.
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AS160 Overexpression Protects Against β-Cell Failure in Hyperglycemic Mice by Interacting With HSPA8 to Regulate Mitophagy. [PDF]

Acta Physiol (Oxf)
Chen W, Lu Y, Liu X, Huang B, Liu D, He B, Zhao Z, Wang Q, Li J, Xiong W.   +9 more
europepmc   +1 more source

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Therapeutic developments in peroxisome biogenesis disorders

Expert Opinion on Investigational Drugs, 2000
Clinically, peroxisome biogenesis disorders (PBDs) are a group of lethal diseases with a continuum of severity of clinical symptoms ranging from the most severe form, Zellweger syndrome, to the milder forms, infantile Refsum disease and rhizomelic chondrodysplasia punctata.
M C McGuinness, K D Smith, Kirby D Smith
exaly   +3 more sources

Zellweger syndrome — a lethal peroxisome biogenesis disorder

Journal of Pediatric Endocrinology and Metabolism, 2013
Zellweger syndrome (ZS) is the severest variety of peroxisomal biogenesis disorder (PBD). This is a fatal hereditary, autosomal recessive disorder. It is characterized by the absence of peroxisomes in the cells which are essential for many metabolic functions especially beta oxidation of very long chain fatty acids (VLCFAs).
Muhammad, Rafique, Shumaila, Zia, Muhammad Nasir, Rana, Ossama A, Mostafa   +3 more
exaly   +3 more sources

Peroxisome Biogenesis Disorders

2020
Peroxisomes are presented in all eukaryotic cells and play essential roles in many of lipid metabolic pathways, including β-oxidation of fatty acids and synthesis of ether-linked glycerophospholipids, such as plasmalogens. Impaired peroxisome biogenesis, including defects of membrane assembly, import of peroxisomal matrix proteins, and division of ...
Masanori, Honsho, Kanji, Okumoto, Shigehiko, Tamura, Yukio, Fujiki   +3 more
openaire   +3 more sources