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Page 1
Peroxisomal disorders.
Moser HW, Bergin A, Cornblath D. Moser HW, et al. Biochem Cell Biol. 1991 Jul;69(7):463-74. doi: 10.1139/o91-070. Biochem Cell Biol. 1991. PMID: 1724376 Review.
The recognition that the organelle is significant in mammals was ushered in by Paul Lazarow's observation that rat peroxisomes catalyze the beta-oxidation of fatty acids. ...
The recognition that the organelle is significant in mammals was ushered in by Paul Lazarow's observation that rat peroxisomes cataly …
Peroxisomes in brain development and function.
Berger J, Dorninger F, Forss-Petter S, Kunze M. Berger J, et al. Biochim Biophys Acta. 2016 May;1863(5):934-55. doi: 10.1016/j.bbamcr.2015.12.005. Epub 2015 Dec 11. Biochim Biophys Acta. 2016. PMID: 26686055 Free PMC article. Review.
Whilst correlating peroxisomal properties with a compilation of pathologies observed in human patients and mouse models lacking all or individual peroxisomal functions, we discuss the importance of peroxisomal metabolites and tissue- and cell type-specific contributions to …
Whilst correlating peroxisomal properties with a compilation of pathologies observed in human patients and mouse models lacking all o …
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjogren-Larsson syndrome.
Malheiro AR, da Silva TF, Brites P. Malheiro AR, et al. J Inherit Metab Dis. 2015 Jan;38(1):111-21. doi: 10.1007/s10545-014-9795-3. Epub 2014 Nov 29. J Inherit Metab Dis. 2015. PMID: 25432520 Review.
Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbone and by the observation that their deficiency causes rhizomelic chondrodysplasia punctata (RCDP). ...
Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbo …
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC. Rossi M, et al. Pediatr Radiol. 2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3. Pediatr Radiol. 2015. PMID: 25646736 Review.
Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). ...Stippling is …
Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dyspl …
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR, Ebberink MS. Waterham HR, et al. Biochim Biophys Acta. 2012 Sep;1822(9):1430-41. doi: 10.1016/j.bbadis.2012.04.006. Epub 2012 Apr 25. Biochim Biophys Acta. 2012. PMID: 22871920 Free article. Review.
Human peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal recessive disorders comprised of two clinically distinct subtypes: the Zellweger syndrome spectrum (ZSS) disorders and rhizomelic chondrodysplasia punctata (RCDP) type 1. PBDs are ca …
Human peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal recessive disorders comprised of two clinically distinct …
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Wegwerth PJ, White AL, Stoway SD, Loken PR, Oglesbee D, Matern D, Tortorelli S, Raymond KM, Braverman NE, Gavrilov DK. Wegwerth PJ, et al. J Inherit Metab Dis. 2023 Nov;46(6):1159-1169. doi: 10.1002/jimd.12682. Epub 2023 Oct 31. J Inherit Metab Dis. 2023. PMID: 37747296 Review.
Measurement of plasmalogens is useful for the biochemical diagnosis of rhizomelic chondrodysplasia punctata (RCDP) and is also informative for Zellweger spectrum disorders (ZSD). ...Postanalytical interpretive tools in Collaborative Laboratory Integrated Reports (CL …
Measurement of plasmalogens is useful for the biochemical diagnosis of rhizomelic chondrodysplasia punctata (RCDP) and is also …
Functions of plasmalogen lipids in health and disease.
Braverman NE, Moser AB. Braverman NE, et al. Biochim Biophys Acta. 2012 Sep;1822(9):1442-52. doi: 10.1016/j.bbadis.2012.05.008. Epub 2012 May 22. Biochim Biophys Acta. 2012. PMID: 22627108 Free article. Review.
Their biosynthesis starts in peroxisomes, and defects at these steps cause the malformation syndrome, Rhizomelic Chondrodysplasia Punctata (RCDP). The RCDP phenotype predicts developmental roles for plasmalogens in bone, brain, lens, lung, kidney and heart. . …
Their biosynthesis starts in peroxisomes, and defects at these steps cause the malformation syndrome, Rhizomelic Chondrodysplasia …
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R. Mason DE, et al. Spine (Phila Pa 1976). 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. Spine (Phila Pa 1976). 2002. PMID: 12634559 Review.
BACKGROUND DATA: Our purpose was to describe the deformities, natural history, and course of treatment in chondrodysplasia punctata, a skeletal dysplasia characterized by stippled epiphysis in infancy, short stature, and progressive kyphoscoliosis. STUDY DESIGN: We …
BACKGROUND DATA: Our purpose was to describe the deformities, natural history, and course of treatment in chondrodysplasia punctat …
Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata.
Luisman T, Smith T, Ritchie S, Malone KE. Luisman T, et al. Orphanet J Rare Dis. 2021 Jul 6;16(1):300. doi: 10.1186/s13023-021-01889-z. Orphanet J Rare Dis. 2021. PMID: 34229749 Free PMC article.
BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease which results in severely impaired physical and mental development. ...To address this, we have prepared a disease incidence and prevalence model based on genetic epidemiology …
BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease which results in severely impaired …
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Thistlethwaite LR, Li X, Burrage LC, Riehle K, Hacia JG, Braverman N, Wangler MF, Miller MJ, Elsea SH, Milosavljevic A. Thistlethwaite LR, et al. Sci Rep. 2022 Apr 21;12(1):6556. doi: 10.1038/s41598-022-10415-5. Sci Rep. 2022. PMID: 35449147 Free PMC article.
We employed CTD, an automated computational diagnostic method that "connects the dots" between metabolite perturbations observed in individual metabolomics profiling data and modules identified in disease-specific metabolite co-perturbation networks learned from prior prof …
We employed CTD, an automated computational diagnostic method that "connects the dots" between metabolite perturbations observed in i …
111 results