Results 41 to 50 of about 12,596 (155)

Peroxisome biogenesis and peroxisome biogenesis disorders

FEBS Letters, 2000
Peroxisome assembly in mammals requires more than 15 genes. Two isoforms of the peroxisome targeting signal type 1 (PTS1) receptor, Pex5pS and Pex5pL, are identified in mammals. Pex5pS and Pex5pL bind PTS1 proteins. Pex5pL, but not Pex5pS, directly interacts with the PTS2 receptor, Pex7p, carrying its cargo PTS2 protein in the cytosol.
openaire   +2 more sources

Analysis of pristanic acid β-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry

Journal of Lipid Research, 1999
In this paper we report the development of highly sensitive, selective, and accurate stable isotope dilution gas chromatography negative chemical ionization mass spectrometry (GC-NCI-MS) methods for quantification of peroxisomal β-oxidation intermediates
N.M. Verhoeven, D.S.M. Schor, E.A. Struys, E.E.W. Jansen, H.J. ten Brink, R.J.A. Wanders, C. Jakobs   +6 more
doaj   +1 more source

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

Journal of Medical Case Reports, 2017
Background The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders.
Maria Blomqvist, Karin Ahlberg, Julia Lindgren, Sacha Ferdinandusse, Jorge Asin-Cayuela   +4 more
doaj   +1 more source

Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study

BMC Medical Genomics
Peroxisomal disorders are a group of hereditary metabolic disorders that happen when peroxisomes are defective. Around 80% of individuals affected by peroxisomal disorders are classified within the spectrum of Zellweger syndromes with autosomal recessive
Sheyda Khalilian, Mohadeseh Fathi, Sanaz Jamshidi, Rasoul Madannejad, Arezou Sayad, Soudeh Ghafouri-Fard, Mohammad Miryounesi   +6 more
doaj   +1 more source

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature. [PDF]

Mol Genet Metab, 2023
Mohan S, Mayers M, Weaver M, Baudet H, De Biase I, Goldstein J, Mao R, McGlaughon J, Moser A, Pujol A, Suchy S, Yuzyuk T, Braverman NE.   +12 more
europepmc   +1 more source

Stereochemistry of the peroxisomal branched-chain fatty acid α- and β-oxidation systems in patients suffering from different peroxisomal disorders

Journal of Lipid Research, 2002
Phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) is a branched-chain fatty acid derived from dietary sources and broken down in the peroxisome to pristanic acid (2,6,10,14-tetramethylpentadecanoic acid) via α-oxidation.
S. Ferdinandusse, H. Rusch, A.E.M. van Lint, G. Dacremont, R.J.A. Wanders, P. Vreken   +5 more
doaj   +1 more source

Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients. [PDF]

Orphanet J Rare Dis, 2023
Zhu Z, Genchev GZ, Wang Y, Ji W, Zhang X, Lu H, Sriswasdi S, Tian G.   +7 more
europepmc   +1 more source

[Peroxisomal disorders].

Postepy biochemii, 2019
Peroxisomes are multifunctional microorganelles that play a key role in numerous biochemical processes adapting dynamically to the current physiological requirements of the cell. The disturbance of the peroxisome structure due to mutations in different PEX and non-PEX genes coding functional peroxisomal proteins is the pathogenic basis of the ...
openaire   +3 more sources

Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan. [PDF]

Int J Neonatal Screen, 2021
Shimozawa N, Takashima S, Kawai H, Kubota K, Sasai H, Orii K, Ogawa M, Ohnishi H.   +7 more
europepmc   +1 more source

Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity. [PDF]

Int J Mol Sci, 2021
Das Y, Swinkels D, Baes M.
europepmc   +1 more source