*  Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy - Full Text View - ClinicalTrials.gov
Peroxisomal Biogenesis Disorders Hypoadrenalism ... Genetics Home Reference related topics: RNAse T2-deficient ... Heredodegenerative Disorders, Nervous System. Metabolism, Inborn Errors. Peroxisomal Disorders. Metabolic Diseases. Adrenal ...
  https://clinicaltrials.gov/ct2/show/NCT01594853?term=Adrenoleukodystrophy&rank=3
*  D-Bifunctional Protein Deficiency
Frequently Asked Questions about Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) compiled by the Global ... This information is provided by Genetics Home Reference. https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency. ... Global Foundation for Peroxisomal Disorders The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by ... Global Foundation for Peroxisomal Disorders The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by ...
  http://www.diseaseinfosearch.org/result/2093
*  Recognition of peroxisomal targeting signal type 1 by the import receptor Pex5p. - Semantic Scholar
We have studied how Pex5p recognizes peroxisomal targeting signal type 1 (PTS1)-containing proteins. A randomly mutagenized ... Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.. *R J A Wanders. , H R Waterham ... Recognition of peroxisomal targeting signal type 1 by the import receptor Pex5p.. *. Adam T Klein. , Phil Barnett. , Gina ... The relevance of the non-canonical PTS1 of peroxisomal catalase.. *Chris Williams. , Eda Bener Aksam. , Katja Gunkel. , Marten ...
  https://www.semanticscholar.org/paper/Recognition-of-peroxisomal-targeting-signal-type-1-Klein-Barnett/f8e37cb024bea36349560787bafd0ffa4f840199
*  Peroxisomal disorder - Wikipedia
Weller, S.; Gould, S. J.; Valle, D. (2003). "Peroxisome Biogenesis Disorders". Annual Review of Genomics and Human Genetics. 4 ... GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisomal disorders at the US ... Wanders, R.; Waterham, H. (2006). "Peroxisomal disorders: the single peroxisomal enzyme deficiencies". Biochimica et Biophysica ... molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum". Molecular Genetics and Metabolism. ...
  https://en.wikipedia.org/wiki/Peroxisomal_disorder
*  PEX6 - Wikipedia
"The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6". Journal of Human Genetics. ... Mutations in the genes encoding PEX6, along with PEX1, are the leading causes of peroxisomal biogenesis disorders, such as ... Waterham HR, Ebberink MS (September 2012). "Genetics and molecular basis of human peroxisome biogenesis disorders". Biochimica ... "A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher ...
  https://en.wikipedia.org/wiki/PEX6
*  BCAP31 Gene - GeneCards | BAP31 Protein | BAP31 Antibody
... disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium ... a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (PMID: 11992258) Corzo D … Steinberg SJ (American ... journal of human genetics 2002) 3 4 22 60 * Caspase-resistant BAP31 inhibits fas-mediated apoptotic membrane fragmentation and ... Disorders for BCAP31 Gene (7) MalaCards diseases for BCAP31 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAP31
*  Genetic Dissection of Peroxisome-Associated Matrix Protein Degradation in Arabidopsis thaliana | Genetics
2005 Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin. Genet. 67: 107-133. ... For example, peroxisome biogenesis defects underlie the Zellweger spectrum of human congenital disorders, which often are fatal ... Because defects in peroxisomal matrix protein import often are accompanied by defects in peroxisomal metabolism, we tested ... Mutations in the PED1 gene encoding a peroxisomal thiolase stabilize GFP-ICL. pfl7 displayed a combination of peroxisomal and ...
  http://www.genetics.org/content/193/1/125
*  Peroxisome Biogenesis Disorder 12A (Zellweger) - CAGS
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. Am J Med Genet A. ... Molecular Genetics. PBD12A is an autosomal recessive disorder caused by homozygous mutations in PEX19. PEX19 encodes a ... Mohamed et al., (2010) reported on a Saudi infant diagnosed with peroxisome biogenesis disorder 12A (PBD12A). She was firstborn ... these constitute the most common and most severe phenotypic class of Peroxisome Biogenesis Disorders (PBD). PBD12A is a subtype ...
  http://www.cags.org.ae/ctga/details.aspx?id=2435&pg=1&se=Latest
*  A viable Arabidopsis pex13 missense allele confers severe peroxisomal defects and decreases PEX5 association with peroxisomes,...
"A viable Arabidopsis pex13 missense allele confers severe peroxisomal defects and decreases PEX5 association with peroxisomes, ... Genetics and molecular basis of human peroxisome biogenesis disorders. Waterham, HR; Ebberink, MS ... PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders ... we isolated a viable allele of the peroxisome biogenesis gene PEX13 with striking peroxisomal defects. The pex13-4 mutant ...
  https://www.deepdyve.com/lp/springer_journal/a-viable-arabidopsis-pex13-missense-allele-confers-severe-peroxisomal-1Jfa7Jlbif
*  Infantile Refsum disease - Wikipedia
The Global Foundation for Peroxisomal Disorders GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger ... molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum". Molecular Genetics and Metabolism. ... is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of ... is one of three peroxisome biogenesis disorders which belong to the Zellweger spectrum of peroxisome biogenesis disorders (PBD- ...
  https://en.wikipedia.org/wiki/Infantile_Refsum_disease
*  Zellweger syndrome - Wikipedia
... molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum". Molecular Genetics and Metabolism. ... Raymond, G. V.; Watkins, P.; Steinberg, S.; Powers, J. (2009). "Peroxisomal Disorders". Handbook of Neurochemistry and ... is one of three peroxisome biogenesis disorders which belong to the Zellweger spectrum of peroxisome biogenesis disorders (PBD- ... GeneReviews: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Krause, C.; Rosewich, H.; Thanos, M.; Gärtner, J. ( ...
  https://en.wikipedia.org/wiki/Zellweger_syndrome
*  Peroxisomal disorders
... are divided into two major categories [2,5-8]:. ●Disorders of peroxisome biogenesis - This group includes ... Professor of Neurology, Pediatrics, and Medical Genetics *Chair, Division of Child and Adolescent Neurology ... Pathology of peroxisomal disorders. Perspect Pediatr Pathol 1993; 17:45.. *Powers J. Peroxisomal diseases. In: Pediatric ... Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta 2006; 1763:1707. ...
  http://www.uptodate.com/contents/peroxisomal-disorders
*  Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot - Mayo Medical Laboratories | Genetics and Pharmacogenomics...
Peroxisomal disorders include 2 major subgroups: disorders of peroxisomal biogenesis and single peroxisomal enzyme/transporter ... Test ID: PLSD Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot Reporting Name. Lysosomal/Peroxisomal D/O Scrn, BS ... It is the most common of the peroxisomal disorders, affecting 1 in 17,000 to 1 in 21,000 males. A defect in the ABCD1 gene is ... Peroxisome biogenesis defects such as Zellweger spectrum disorders are characterized by defective assembly of the entire ...
  http://genetics.testcatalog.org/show/PLSD
*  PEX26 Gene - GeneCards | PEX26 Protein | PEX26 Antibody
... disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium ... Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872]: A peroxisomal disorder arising from a failure of ... Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics ... Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872]: A fatal peroxisome biogenesis disorder belonging to the Zellweger ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=PEX26
*  Betaine and Peroxisome Biogenesis Disorders - Full Text View - ClinicalTrials.gov
Peroxisome Biogenesis disorder-Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders ... Genetics Home Reference related topics: D-bifunctional protein deficiency Zellweger spectrum disorder alpha-methylacyl-CoA ... Peroxisome Biogenesis Disorder (PBD) confirmed by biochemical analysis of at least two peroxisomal enzyme parameters:. * ... Peroxisome Biogenesis Disorder. PBD. neonatal adrenoleukodystrophy. infantile Refsum disease. PEX1 mutation. Betaine. ...
  https://clinicaltrials.gov/ct2/show/NCT01838941?recr=Open&cond=%22Adrenoleukodystrophy%22&rank=13
*  Betaine and Peroxisome Biogenesis Disorders - Full Text View - ClinicalTrials.gov
Peroxisome Biogenesis disorder-Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders ... Genetics Home Reference related topics: D-bifunctional protein deficiency Zellweger spectrum disorder alpha-methylacyl-CoA ... Peroxisome Biogenesis Disorder (PBD) confirmed by biochemical analysis of at least two peroxisomal enzyme parameters:. * ... Peroxisomal Disorders. Genetic Diseases, Inborn. Metabolic Diseases. Pathologic Processes. Metabolism, Inborn Errors. Betaine. ...
  https://clinicaltrials.gov/ct2/show/NCT01838941?term=Infantile+Refsum+Disease&rank=3
*  PEX26 - Wikipedia
GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum OMIM entries on Peroxisome ... "Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis". American Journal of Human Genetics. 76 (6 ... peroxisomal localization, and interaction with the Pex1p x Pex6p complex". The Journal of Biological Chemistry. 281 (3): 1317- ... "Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype- ...
  https://en.wikipedia.org/wiki/PEX26
*  Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in...
... identification of a new complementation group of peroxisome biogenesis disorders, absent from peroxisomal membrane ghosts. Am J ... fWillink Biochemical Genetics Unit, Royal Manchester Children's Hospital, University of Manchester School of Medicine, ... 1995) Disorders of peroxisome biogenesis. Scriver CR, Beaudet AL, Sly WS, Valle D. The metabolic and molecular basis of ... 1997) Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nat Genet 17:445-448. ...
  http://jmg.bmj.com/content/36/10/779
*  KAKEN - Research Projects | PATHOGENESIS OF X-LINKED ADRENOLEUKODYSTROPHY (KAKENHI-PROJECT-08670871)
... a newly identified peroxisomal disorder.' American J Human Genetics. 61. 1153-1162 (1997). *. Description. 「研究成果報告書概要(和文)」より ... a gene responsible for group Cperoxisome biogenesis disorder in humans.' American Journal of Human Genetics. 59. 1210-1220 ( ... Incidence of peroxisomal disorders including ALD in Japan was clarified. D-bifunctional protein deficiency, which is ... As for the peroxisome biogenesis disorders, a novel pathogenic gene (peroxisome assembly factor-2, PAF-2) was identified, ...
  https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-08670871/
*  A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the...
Peroxisomal Biogenesis Disorders Hypoadrenalism ... Genetics Home Reference related topics: RNAse T2-deficient ... Heredodegenerative Disorders, Nervous System. Metabolism, Inborn Errors. Peroxisomal Disorders. Metabolic Diseases. Adrenal ...
  https://clinicaltrials.gov/ct2/show/NCT01896102?cond=%22Renpenning+syndrome%22+OR+%22Mental+Retardation%2C+X-Linked%22&rank=6
*  Rhizomelic chondrodysplasia punctata - Wikipedia
Plasmalogen Peroxisomal disorder Reference, Genetics Home. "rhizomelic chondrodysplasia punctata". Genetics Home Reference. ... Type 1 (RCDP1) is associated with PEX7 mutations,these are peroxisome biogenesis disorders where proper assembly of peroxisomes ... Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the ...
  https://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata
*  Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy - Full Text View - ClinicalTrials.gov
Peroxisomal Biogenesis Disorders Hypoadrenalism ... Genetics Home Reference related topics: RNAse T2-deficient ... Heredodegenerative Disorders, Nervous System. Metabolism, Inborn Errors. Peroxisomal Disorders. Metabolic Diseases. Adrenal ...
  https://clinicaltrials.gov/ct2/show/NCT00004418?cond=%22Adrenomyeloneuropathy%22&rank=4
*  Peroxisomal Disorders : Genetic Diseases of the Eye, Second Edition - oi
Peroxisomal diseases were hence divided into (1) disorders of peroxisomal assembly or biogenesis, where peroxisomes are ... in Oxford Monographs on Medical Genetics. ISBN: 9780195326147. E-ISBN: 9780199975181. DOI: http://dx.doi.org/10.1093/med/ ... The clinician should suspect a disorder or peroxisomal biogenesis, such as the Zellweger spectrum (ZS, NALD, or IRD) or RCDP ... The mechanism of peroxisomal biogenesis involves specific targeting of proteins by peroxisomal targeting signals (PTS) within ...
  http://oxfordindex.oup.com/view/10.1093/med/9780195326147.003.0044
*  PEX5 - Wikipedia
"Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders". Nature Genetics. 17 (4): 445-8. doi:10.1038/ ... "Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal ... define complementation group 2 of the peroxisome biogenesis disorders". Nature Genetics. 9 (2): 115-25. doi:10.1038/ng0295-115 ... GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum OMIM entries on Peroxisome ...
  https://en.wikipedia.org/wiki/PEX5
*  Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia...
Acyltransferases / genetics, metabolism. Alkyl and Aryl Transferases / genetics, metabolism. Animals. CHO Cells. Cell Line, ... GPI lipid remodeling is defective in cells from patients with Zellweger syndrome having mutations in the peroxisomal biogenesis ... A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata ( ... Membrane Proteins / genetics, metabolism. Mutation. Peroxisomes / genetics, metabolism. Receptors, Cytoplasmic and Nuclear / ...
  http://www.biomedsearch.com/nih/Defective-lipid-remodeling-GPI-anchors/22253471.html