Results 31 to 40 of about 7,958 (196)

Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase

Journal of Lipid Research, 2003
Refsum disease is a peroxisomal disorder characterized by adult-onset retinitis pigmentosa, anosmia, sensory neuropathy, ataxia, and an accumulation of phytanic acid in plasma and tissues.
Veerle Foulon, Stanny Asselberghs, Wendy Geens, Guy P. Mannaerts, Minne Casteels, Paul P. Van Veldhoven   +5 more
doaj   +1 more source

Brain Peroxisomes [PDF]

, 2013
Peroxisomes are essential organelles in higher eukaryotes as they play a major role in numerous metabolic pathways and redox homeostasis. Some peroxisomal abnormalities, which are often not compatible with life or normal development, were identified in ...
Geillon, Flore, Gondcaille, Catherine, Lizard, Gérard, Nury, T., Savary, Stéphane, Trompier, Doriane, Vejux, A., Zarrouk, A.   +7 more
core   +3 more sources

Genetic testing for Refsum disease

The EuroBiotech Journal, 2017
We reviewed the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Refsum disease. The disease has autosomal recessive inheritance, unknown prevalence, and is caused by variations in PEX7 and ...
Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, D’Esposito Fabiana, Bertelli Matteo   +5 more
doaj   +1 more source

Genetic and environmental influences on plasma homocysteine: results from a Danish twin study [PDF]

, 2007
  Udgivelsesdato: 2007-MayBACKGROUND: Increased plasma homocysteine has been linked to many clinical conditions including atherosclerosis and ischemic stroke.
Bathum, Lise, Christiansen, Lene, Konieczna, Agnieszka, Kyvik, Kirsten O, Petersen, Inge, Sørensen, Thorkild I A   +5 more
core   +1 more source

Cerebellar transcriptional alterations with Purkinje cell dysfunction and loss in mice lacking PGC-1α

Frontiers in Cellular Neuroscience, 2015
Alterations in the expression and activity of the transcriptional coactivator peroxisome proliferator-activated receptor γ coactivator-1α (ppargc1a or PGC-1α) have been reported in multiple movement disorders, yet it is unclear how a lack of PGC-1α ...
Elizabeth K Lucas, Elizabeth K Lucas, Courtney S. Reid, Laura J. McMeekin, Sarah E. Dougherty, Sarah E. Dougherty, Candace L. Floyd, Rita Marie Cowell   +7 more
doaj   +1 more source

Serum homocysteine, vitamin B 12 and folic acid levels in different types of glaucoma [PDF]

, 2006
Background This study was performed to compare levels of serum homocysteine (Hcy), vitamin B12 and folic acid in patients with primary open-angle glaucoma (POAG), pseudoexfoliative glaucoma (PEXG), normotensive glaucoma (NTG) and healthy controls ...
Tongabay Cumurcu, Semsettin Sahin, Erdinc Aydin, J Flammer, SS Hayreh, V Bousse, M Cahill, P Pianka, A Lowenstein, BA Brown, JD Finkelstein, PM Ueland, MJ Stampfer, IJ Perry, AA Warsi, F Leblhuber, S Bleich, I Leibovitch, RM Vessani, T Puustjarvi, O Altintas, G Wang, T Brunelli, GJ Hankey, GJ Hankey, Z Bagi, GG Koliakos, BA Sela, N Asano, K Karjalainen, C Cursiefen, p Mitchell, S Schumacher, LP Repo   +33 more
core   +1 more source

Multiple Teeth Impaction in an Adult Patient Affected by Infantile Refsum Disease: A Case Report

Oral
Introduction: Infantile Refsum disease (IRD) is considered one of the milder phenotypes within the Zellweger Spectrum Disorders (ZSDs), a group of peroxisomal biogenesis disorders characterized by a generalized impairment of peroxisomal function ...
Edoardo Staderini, Gioele Gioco, Federica Guglielmi, Francesca Cazzato, Licia Leccese, Carmen Chiara Nacca, Patrizia Gallenzi   +6 more
doaj   +1 more source

The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes

Neurobiology of Disease, 2009
Pristanic acid and phytanic acid are branched-chain fatty acids, which play an important role in diseases with peroxisomal impairment, like Refsum disease (MIM 266500), Zellwegers syndrome and α-methylacyl-CoA racemase deficiency (MIM 604489).
Sabine Rönicke, Nicol Kruska, Stefan Kahlert, Georg Reiser   +3 more
doaj   +1 more source

Do dietary patterns in older men influence change in homocysteine through folate fortification? The Normative Aging Study [PDF]

Objective We aimed to describe the difference in B-vitamin intake and in plasma B-vitamin and homocysteine concentrations before and after folic acid fortification, in relation to dietary patterns. Design The Normative Aging Study (NAS) is a longitudinal
Groot, C.P.G.M., de, Knoops, K.T.B., Kromhout, D., Spiro, A., Staveren, W.A., van, Tucker, K.L.   +5 more
core   +2 more sources

The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes

Neurobiology of Disease, 2005
The saturated branched chain fatty acid, phytanic acid, a degradation product of chlorophyll, accumulates in Refsum disease, an inherited peroxisomal disorder with neurological clinical features. To elucidate the pathogenic mechanism, we investigated the
Stefan Kahlert, Peter Schönfeld, Georg Reiser   +2 more
doaj   +1 more source