Wanders, R.; Waterham, H. (2006). "Peroxisomal disorders: the single peroxisomal enzyme deficiencies". Biochimica et Biophysica ... Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to ... Peroxisomal+disorders at the U.S. National Library of Medicine Medical Subject Headings (MeSH) (Articles with short description ... Peroxisomal disorders also include: Wanders, R. J. A.; Waterham, H. R. (2006). "Biochemistry of Mammalian Peroxisomes Revisited ...

Genetic diseases and disorders, Autosomal recessive disorders, Peroxisomal disorders). ... doi:10.1016/B978-0-323-40139-5.00023-1. ISBN 978-0-323-40139-5. Aubourg, P; Wanders, R (2013). Peroxisomal disorders. Handbook ... This is the gene that codes for the production of an enzyme called peroxisomal straight-chain acyl-CoA oxidase which is ... "Peroxisomal acyl-CoA oxidase deficiency". Genetics Home Reference, NIH. October 23, 2018. Thomas, Janet A.; Lam, Christina; ...

Peroxisomal disorders, Autosomal recessive disorders, Rare diseases, Genodermatoses, Neurodegenerative disorders). ... is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of ... Raymond, G. V.; Watkins, P.; Steinberg, S.; Powers, J. (2009). "Peroxisomal Disorders". Handbook of Neurochemistry and ... biochemical tests have proven highly effective for the diagnosis of infantile Refsum disease and other peroxisomal disorders. ...

Raymond, G. V.; Watkins, P.; Steinberg, S.; Powers, J. (2009). "Peroxisomal Disorders". Handbook of Neurochemistry and ... It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies. Zellweger syndrome is named ... kidney and retina of patients with peroxisomal disorders". Brain Research. 583 (1-2): 171-82. doi:10.1016/s0006-8993(10)80021-6 ... Peroxisomal disorders, Leukodystrophies, Urological conditions, Syndromes affecting the nervous system, Syndromes with ...

Peroxisomal disorders are a class of medical conditions that typically affect the human nervous system as well as many other ... Depreter M, Espeel M, Roels F (June 2003). "Human peroxisomal disorders". Microscopy Research and Technique. 61 (2): 203-23. ... Gould, S. J. (Sep 1988). "Identification of peroxisomal targeting signals located at the carboxy terminus of four peroxisomal ... The biogenesis of the peroxisomal membrane and the insertion of peroxisomal membrane proteins (PMPs) requires the peroxins ...

Peroxisomal disorder "LEARN Oxalosis & Hyperoxaluria , Oxalosis & Hyperoxaluria Foundation". www.ohf.org. "Primary ... "FDA Approves First Drug to Treat Rare Metabolic Disorder". U.S. Food and Drug Administration (FDA) (Press release). 23 November ... Hyperoxaluria". NORD (National Organization for Rare Disorders). Hopp, Katharina; Cogal, Andrea G.; Bergstralh, Eric J.; Seide ...

... although it is quite different from other peroxisomal disorders and does not share classic Refsum disorder symptoms. The ... Chedrawi A, Clark GD (2007-03-08). "Peroxisomal Disorders: Overview - eMedicine Neurology". medscape.com. Archived from the ... This deficiency falls within a class of disorders called peroxisome biogenesis disorders (PBDs), ... McLean BN, Allen J, Ferdinandusse S, Wanders RJ (Mar 2002). "A new defect of peroxisomal function involving pristanic acid: a ...

Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology. Vol. 544. pp. 221-4. doi:10.1007/ ... "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein ... "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein ... Peroxisomal biogenesis factor 19 is a protein that in humans is encoded by the PEX19 gene. PEX19 has been shown to interact ...

Wierzbicki, A.S. (2007). "Peroxisomal disorders affecting phytanic acid α-oxidation: A review". Biochemical Society ... Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology. Vol. 544. pp. 247-54. doi:10.1007 ... Refsum disease (also known as adult Refsum disease) is an autosomal recessive disorder that results in the accumulation of ...

Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from ... Peroxisome biogenesis factor 10 is involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal ... Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology. Vol. 544. p. 71. doi:10.1007/978- ... Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is ...

El-Maarri O (2003). "Methods: DNA methylation". Peroxisomal Disorders and Regulation of Genes. Advances in Experimental ...

Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology. Vol. 544. pp. 221-4. doi:10.1007/ ... Peroxisomal biogenesis factor 3 is a protein that in humans is encoded by the PEX3 gene. PEX3 has been shown to interact with ... "Entrez Gene: PEX3 peroxisomal biogenesis factor 3". Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz ... Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (Mar 2000). "PEX19 binds multiple peroxisomal membrane proteins, is ...

Deficiencies are associated with several peroxisomal disorders. Peroxins serve several functions including the recognition of ... Some of them were predicted to be single-pass transmembrane proteins, for example Peroxisomal biogenesis factor 11 Pernoxin is ... Peroxins (or peroxisomal/peroxisome biogenesis factors) represent several protein families found in peroxisomes. ... cytoplasmic proteins that contain peroxisomal targeting signals (PTS) that tag them for transport by peroxisomal proteins to ...

Wanders, R.; Waterham, H. (2006). "Peroxisomal disorders: the single peroxisomal enzyme deficiencies". Biochimica et Biophysica ... Peroxisome biogenesis disorders are autosomal recessive disorders often characterized by impaired plasmalogen biosynthesis. In ... Unlike the peroxisome biogenesis disorders, other aspects of peroxisome assembly in RCDP2 and RCDP3 patients are normal as is ... Biosynthesis of plasmalogens begins with association of peroxisomal matrix enzymes GNPAT (glycerone phosphate acyl transferase ...

Gene therapy for ocular disorders, (2018). Gene therapy for treating peroxisomal disorders, (2018). Trans-splicing molecules, ( ... "Gene therapy for treating peroxisomal disorders", published 2018-12-06, assigned to The Trustees of the University of ... Methods and compositions for treatment of disorders and diseases involving RDH12, (2019). Gene therapy for ocular disorders, ( ... WO application 2018200542, Bennett, Jean; Sun, Junwei & Shindler, Kenneth et al., "Gene therapy for ocular disorders", ...

Plasmalogen Peroxisomal disorder "Rhizomelic chondrodysplasia punctata type 1". Genetic and Rare Diseases Information Center ( ... Type 1 (RCDP1) is associated with PEX7 mutations; these are peroxisome biogenesis disorders where proper assembly of ... Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs ( ... There are 3 pathways that depend on peroxisomal biogenesis factor 7 activities, including:[verification needed] AGPS (catalyzes ...

His research on peroxisomal disorders achieved international recognition. Moser was born in Bern, Switzerland, the son of Maria ... he started screening programs for amino acid disorders and lysosomal disorders. When training with other neurologists under Ray ... In the early research years, Moser and Boody worked on lysosomal disorders. They were the first to describe the presence of ... Kelly, Jacques; O'Brien, Dennis (January 23, 2007). "Hopkins doctor studied rare disorder ALD". The Baltimore Sun. "Hugo Moser ...

Wanders RJ (May 2004). "Metabolic and molecular basis of peroxisomal disorders: a review". American Journal of Medical Genetics ... The majority of peroxisomal matrix proteins possess this PTS1 type signal. Peroxisome targeting signal 2 (PTS2): a nonapeptide ... In the case of cytosolic proteins that are produced with the PTS1 C-terminal sequence, its path to the peroxisomal matrix is ... The cycle for pex5 mediated import into the peroxisomal matrix is restored after the ATP dependent removal of ubiquitin and is ...

Mutations in the genes encoding PEX1, along with PEX6, are the leading causes of peroxisomal biogenesis disorders, such as ... Wanders RJ (May 2004). "Metabolic and molecular basis of peroxisomal disorders: a review". American Journal of Medical Genetics ... Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal ... This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a ...

August 2005). "Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder". Pediatric Research ... Peroxisomal membrane protein PEX13 is a protein that in humans is encoded by the PEX13 gene. It located on chromosome 2 next to ... Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is ... Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is ...

Articles with short description, Short description matches Wikidata, Leukodystrophies, Peroxisomal disorders, Neonatology). ...

2010). "Peroxisomal Disorder-Unusual Presentation as Failure to Thrive in Early Infancy". Indian Journal of Pediatrics. 77 (10 ...

MRI evidence that docosahexaenoic acid DHA ethyl ester improves myelination in generalized peroxisomal disorders. Demyelination ... "MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders". Neurology. 51 (1 ... is the best known disorder of myelin. The process of generating myelin is called myelination or myelinogenesis. In the CNS, ... as demonstrated by the consequences of disorders that affect it, such as the genetically determined leukodystrophies; the ...

... is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders ... D-BP deficiency is the most severe peroxisomal disorder, often resembling Zellweger syndrome. Characteristics of the disorder ... Recent studies in D-BP knockout mice show compensatory upregulation of other peroxisomal enzymes in absence of D-BP such as ... The D-BP protein contains a peroxisomal targeting signal 1 (PTS1) unit at the C-terminus allowing for its transport into ...

Mutations in the genes encoding PEX6, along with PEX1, are the leading causes of peroxisomal biogenesis disorders, such as ... "A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher ... "The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6". Journal of Human Genetics. ... removes PEX5 from the peroxisomal membrane so that PEX5 may do additional rounds of peroxisomal import. Human PEX6 can ...

Mutations of the gene are a cause of peroxisomal disorders such as Zellweger syndrome. HSD17B4 "EHHADH enoyl-CoA hydratase and ... EHHADH is a human gene that encodes for a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation ...

... as well as other peroxisomal disorders, including both infantile and adult Refsum disease, and Zellweger syndrome. The disorder ... Amino acid metabolism disorders, Autosomal recessive disorders, Rare diseases, All stub articles, Genetic disorder stubs). ... Pipecolic acidemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect. Pipecolic ... syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation ...

Certain peroxisomal disorders, such as adrenoleukodystrophy and Zellweger syndrome, can be associated with an accumulation of ...

... of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders". Clinica ...

... syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation ... Peroxisomal biogenesis factor 2 is a protein that in humans is encoded by the PEX2 gene. This gene encodes an integral ... "Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)". Distel B, Erdmann R, Gould SJ, et al. (1996). " ... The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of ...