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Peroxisome biogenesis disorder, complementation group 10(CG10)

MedGen UID:
472667
•Concept ID:
CN159246
•
Disease or Syndrome
Synonyms: CG10; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F

Professional guidelines

PubMed

Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y
Biochem J 2001 Jul 15;357(Pt 2):417-26. doi: 10.1042/0264-6021:3570417. PMID: 11439091Free PMC Article

Recent clinical studies

Etiology

Peroxisome biogenesis and human peroxisome-deficiency disorders.
Fujiki Y
Proc Jpn Acad Ser B Phys Biol Sci 2016;92(10):463-477. doi: 10.2183/pjab.92.463. PMID: 27941306Free PMC Article
Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases.
Shimozawa N
Brain Dev 2011 Oct;33(9):770-6. Epub 2011 Apr 5 doi: 10.1016/j.braindev.2011.03.004. PMID: 21470807
Human peroxisomal disorders.
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y
Biochem J 2001 Jul 15;357(Pt 2):417-26. doi: 10.1042/0264-6021:3570417. PMID: 11439091Free PMC Article
Metabolic control of peroxisome abundance.
Chang CC, South S, Warren D, Jones J, Moser AB, Moser HW, Gould SJ
J Cell Sci 1999 May;112 ( Pt 10):1579-90. doi: 10.1242/jcs.112.10.1579. PMID: 10212151

Diagnosis

Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases.
Shimozawa N
Brain Dev 2011 Oct;33(9):770-6. Epub 2011 Apr 5 doi: 10.1016/j.braindev.2011.03.004. PMID: 21470807
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.
Shimozawa N, Nagase T, Takemoto Y, Ohura T, Suzuki Y, Kondo N
Am J Med Genet A 2003 Jul 1;120A(1):40-3. doi: 10.1002/ajmg.a.20030. PMID: 12794690
Human peroxisomal disorders.
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
Tamura S, Matsumoto N, Imamura A, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y
Biochem J 2001 Jul 15;357(Pt 2):417-26. doi: 10.1042/0264-6021:3570417. PMID: 11439091Free PMC Article
Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
Imamura A, Tamura S, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, Orii T, Kondo N, Osumi T, Fujiki Y
Hum Mol Genet 1998 Dec;7(13):2089-94. doi: 10.1093/hmg/7.13.2089. PMID: 9817926

Prognosis

Human peroxisomal disorders.
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
Shimozawa N, Imamura A, Zhang Z, Suzuki Y, Orii T, Tsukamoto T, Osumi T, Fujiki Y, Wanders RJ, Besley G, Kondo N
J Med Genet 1999 Oct;36(10):779-81. doi: 10.1136/jmg.36.10.779. PMID: 10528859Free PMC Article

Clinical prediction guides

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.
Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA
Am J Hum Genet 2000 Oct;67(4):967-75. Epub 2000 Aug 24 doi: 10.1086/303071. PMID: 10958759Free PMC Article
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
Shimozawa N, Imamura A, Zhang Z, Suzuki Y, Orii T, Tsukamoto T, Osumi T, Fujiki Y, Wanders RJ, Besley G, Kondo N
J Med Genet 1999 Oct;36(10):779-81. doi: 10.1136/jmg.36.10.779. PMID: 10528859Free PMC Article
Metabolic control of peroxisome abundance.
Chang CC, South S, Warren D, Jones J, Moser AB, Moser HW, Gould SJ
J Cell Sci 1999 May;112 ( Pt 10):1579-90. doi: 10.1242/jcs.112.10.1579. PMID: 10212151
Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70.
Gärtner J, Brosius U, Obie C, Watkins PA, Valle D
Eur J Cell Biol 1998 Aug;76(4):237-45. doi: 10.1016/S0171-9335(98)80001-0. PMID: 9765053

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