Peroxisomal disorder
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 ...
Peroxisomal targeting signal
Receptors recognize and bind to a region of the peroxisomal protein called a peroxisomal targeting signal, or PTS. Peroxisomes ... In biochemical protein targeting, a peroxisomal targeting signal (PTS) is a region of the peroxisomal protein that receptors ... All peroxisomal proteins are synthesized in the cytoplasm and must be directed to the peroxisome. The first step in this ... A few peroxisomal matrix proteins have a different, and less conserved sequence, at their amino termini. This PTS2 signal is ...
Peroxisomal membrane protein PMP34
... is a protein that in humans is encoded by the SLC25A17 gene. SLC25A17 is a peroxisomal ... Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is ... Visser WF, van Roermund CW, Waterham HR, Wanders RJ (December 2002). "Identification of human PMP34 as a peroxisomal ATP ... Honsho M, Fujiki Y (March 2001). "Topogenesis of peroxisomal membrane protein requires a short, positively charged intervening- ...
Lon peptidase 2, peroxisomal
... is a protein that in humans is encoded by the LONP2 gene. In human, peroxisomes function primarily ... "Entrez Gene: Lon peptidase 2, peroxisomal". Retrieved 2017-12-04. Ondrovicová G, Liu T, Singh K, Tian B, Li H, Gakh O, Perecko ... that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal ...
Peroxisomal biogenesis factor 11
... (PEX11) are peroxisomal membrane proteins which promote peroxisome division in eukaryotic ...
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 ... Biermanns M, von Laar J, Brosius U, Gärtner J (2003). "The peroxisomal membrane targeting elements of human peroxin 2 (PEX2)". ...
Adrenoleukodystrophy
ALD is caused by mutations in ABCD1, a gene located on the X chromosome that codes for ALD, a peroxisomal membrane transporter ... It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the ... ALD is the most common peroxisomal inborn error of metabolism, with an incidence estimated between 1:18,000 and 1:50,000. It ... The gene ABCD1 encodes a peroxisomal membrane transporter which is responsible for transporting very long chain fatty acid ...
Acyl-CoA oxidase deficiency
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; ... "264470 - Peroxisomal Acyl-CoA Oxidase Deficiency". OMIM, Johns Hopkins University. September 9, 2008. Retrieved 2018-10-25. ... doi:10.1016/B978-0-323-40139-5.00023-1. ISBN 978-0-323-40139-5. Aubourg, P; Wanders, R (2013). Peroxisomal disorders. Handbook ...
Infantile Refsum disease
Infantile Refsum disease (IRD) is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger ... 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. ... Peroxisomal disorders, Autosomal recessive disorders, Rare diseases, Genodermatoses, Neurodegenerative disorders). ...
Zellweger syndrome
Raymond, G. V.; Watkins, P.; Steinberg, S.; Powers, J. (2009). "Peroxisomal Disorders". Handbook of Neurochemistry and ... 31 August 2010). "Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial". Neurology ... 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 ...
Peroxisome
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 ... Two independent evolutionary analyses of the peroxisomal proteome found homologies between the peroxisomal import machinery and ... a peroxisomal integral membrane protein. PMPs are then inserted into the peroxisomal membrane. The degradation of peroxisomes ...
Monodehydroascorbate reductase (NADH)
2005). "Peroxisomal monodehydroascorbate reductase. Genomic clone characterization and functional analysis under environmental ...
Isocitrate dehydrogenase
Maeting I, Schmidt G, Sahm H, Stahmann KP (2000). "Role of a peroxisomal NADP-specific isocitrate dehydrogenase in the ... Corpas FJ, Barroso JB, Sandalio LM, Palma JM, Lupiáñez JA (November 1999). "Peroxisomal NADP-Dependent Isocitrate Dehydrogenase ...
Primary hyperoxaluria
Peroxisomal disorder "LEARN Oxalosis & Hyperoxaluria , Oxalosis & Hyperoxaluria Foundation". www.ohf.org. "Primary ...
Alpha-methylacyl-CoA racemase
McLean BN, Allen J, Ferdinandusse S, Wanders RJ (Mar 2002). "A new defect of peroxisomal function involving pristanic acid: a ... Amery L, Fransen M, De Nys K, Mannaerts GP, Van Veldhoven PP (Nov 2000). "Mitochondrial and peroxisomal targeting of 2- ... Chedrawi A, Clark GD (2007-03-08). "Peroxisomal Disorders: Overview - eMedicine Neurology". medscape.com. Archived from the ... although it is quite different from other peroxisomal disorders and does not share classic Refsum disorder symptoms. The ...
List of OMIM disorder codes
ARFGEF2 Peroxisomal acyl-CoA oxidase deficiency; 264470; ACOX1 Perry syndrome; 168605; DCTN1 Persistent Mullerian duct syndrome ...
PEX19
"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 ... Fang Y, Morrell JC, Jones JM, Gould SJ (2004). "PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal ...
Phytol
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 ...
PEX10
Peroxisome biogenesis factor 10 is involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal ... Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is ... Fransen M, Wylin T, Brees C, Mannaerts GP, Van Veldhoven PP (July 2001). "Human pex19p binds peroxisomal integral membrane ... Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from ...
Bisulfite sequencing
El-Maarri O (2003). "Methods: DNA methylation". Peroxisomal Disorders and Regulation of Genes. Advances in Experimental ...
ACOX1
1996). "Hepatocellular and hepatic peroxisomal alterations in mice with a disrupted peroxisomal fatty acyl-coenzyme A oxidase ... Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the ACOX1 gene. The protein encoded by this ... Varanasi U, Chu R, Chu S, Espinosa R, LeBeau MM, Reddy JK (May 1994). "Isolation of the human peroxisomal acyl-CoA oxidase gene ... 1995). "Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies". Ann. Neurol. 38 (3): 472-7. doi ...
PEX3
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 ... Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (Mar 2000). "PEX19 binds multiple peroxisomal membrane proteins, is ...
Carnitine O-octanoyltransferase
It was found that administration of di(2-ethylhexyl)phthalate (DEHP), a peroxisomal proliferator, to Wistar rats led to an ... CROT may play a role in converting peroxisomal medium-chain acylcarnitine derivatives to medium-chain acyl-CoA derivatives. ... A'Bháird, N. N.; Ramsay, R. R. (1992-09-01). "Malonyl-CoA inhibition of peroxisomal carnitine octanoyltransferase". The ... Rescue experiments with CROT gene knockout cells have shown that peroxisomal CROT can mediate acetyl-CoA production under ...
Peroxin
... s (or peroxisomal/peroxisome biogenesis factors) represent several protein families found in peroxisomes. Deficiencies ... Some of them were predicted to be single-pass transmembrane proteins, for example Peroxisomal biogenesis factor 11 Pernoxin is ... Peroxins serve several functions including the recognition of cytoplasmic proteins that contain peroxisomal targeting signals ( ... peroxisomal protein import in review". Die Naturwissenschaften. 86 (2): 51-61. Bibcode:1999NW.....86...51C. doi:10.1007/ ...
History of Earth
"Origin and evolution of the peroxisomal proteome". Biology Direct. 1 (1): 8. doi:10.1186/1745-6150-1-8. PMC 1472686. PMID ...
PEX6
... removes PEX5 from the peroxisomal membrane so that PEX5 may do additional rounds of peroxisomal import. Human PEX6 can ... "Entrez Gene: PEX6 peroxisomal biogenesis factor 6". Tamura S, Shimozawa N, Suzuki Y, Tsukamoto T, Osumi T, Fujiki Y (April 1998 ... 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 ...
Plasmalogen
Wanders, R.; Waterham, H. (2006). "Peroxisomal disorders: the single peroxisomal enzyme deficiencies". Biochimica et Biophysica ... In these cases, the peroxisomal enzyme GNPAT, necessary for the initial steps of plasmalogen biosynthesis, is mislocalized to ... Biosynthesis of plasmalogens begins with association of peroxisomal matrix enzymes GNPAT (glycerone phosphate acyl transferase ... and AGPS (alkyl-glycerone phosphate synthase) on the luminal side of the peroxisomal membrane. These two enzymes can interact ...
PEX11B
Peroxisomal membrane protein 11B is a protein that in humans is encoded by the PEX11B gene. It is involved in the regulation of ... Sacksteder, K A; Jones J M; South S T; Li X; Liu Y; Gould S J (March 2000). "Pex19 Binds Multiple Peroxisomal Membrane Proteins ... "Entrez Gene: PEX11B peroxisomal biogenesis factor 11B". Thoms S, Erdmann R (October 2005). "Dynamin-related proteins and Pex11 ... Fransen, M; Wylin T; Brees C; Mannaerts G P; Van Veldhoven P P (July 2001). "Human Pex19p Binds Peroxisomal Integral Membrane ...
PEX14
Peroxisomal membrane protein PEX14 is a protein that in humans is encoded by the PEX14 gene. This gene encodes an essential ... "Entrez Gene: PEX14 peroxisomal biogenesis factor 14". Otera H, Setoguchi K, Hamasaki M, Kumashiro T, Shimizu N, Fujiki Y (Mar ... Gavva NR, Wen SC, Daftari P, Moniwa M, Yang WM, Yang-Feng LP, Seto E, Davie JR, Shen CK (Mar 2002). "NAPP2, a peroxisomal ... Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (Mar 2000). "PEX19 binds multiple peroxisomal membrane proteins, is ...
Jean Bennett
"Gene therapy for treating peroxisomal disorders", published 2018-12-06, assigned to The Trustees of the University of ... Gene therapy for treating peroxisomal disorders, (2018). Trans-splicing molecules, (2019). Gene therapy for ocular disorders, ( ...