Results 31 to 40 of about 4,864,231 (177)

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

Electromechanical modelling and simulation of human‐induced pluripotent stem cell‐derived cardiomyocytes predict drug‐induced contractility effects

The Journal of Physiology, Volume 604, Issue 13, Page 5629-5662, 1 July 2026.
Abstract figure legend A study described in this paper describes a new tool for hiPSC‐CM electromechanical behaviour simulations using mathematical modelling. The model enables in silico assays making drug testing quick, comprehensive and accurate. New hiPSC‐CM models can be used as a platform to integrate in vitro and in silico findings.
Milda Folkmanaite, Xin Zhou, Andreas Koschinski, Wan‐Hua Hong, Marilù Casini, Manuel Koch, Ursula Ravens, Remi Peyronnet, Manuela Zaccolo, Blanca Rodriguez   +9 more
wiley   +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

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 561-578, June 2026.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere)

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Adult Refsum disease (ARD; OMIM 266510) is a degenerative autosomal recessive condition typically diagnosed in adulthood. It affects visual, auditory and nervous system function. It is characterised by plasma, neuro‐ophthalmological and adipose tissue accumulation of the dietary‐derived phytanic acid (PA).
Radha Ramachandran, Raphael Buttigieg, Florian Eichler, Bart P. Leroy, Omar Mahroo, Rachel M. Huckfeldt, Sarah Firman, Eleanor Baldwin, Kristie DeMarco, Susan Kuranoff, Amena Fine, Reinhard Klingel, Sacha Ferdinandusse, Joseph G. Hacia, Ronald J. Wanders, Anthony S. Wierzbicki   +15 more
wiley   +1 more source

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

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution.

, 2000
We describe an 18-year-old patient with psychomotor retardation and abnormally short metatarsi and metacarpals but no other signs of classic Refsum disease.
Mooyer, P A W, Espeel, M, VERHOEVEN, NM, Verhoeven, N M, JANSEN, GA, Jansen, G A, Verhoeven, N. M., WANDERS, R, JAKOBS, C, Roels, F., Mooyer, P. A., Espeel, M., Espeel, MarcUGent801000445550978194627593F3FE00B4-F0ED-11E1-A9DE-61C894A0A6B4, Roels, Frank, FOURMAINTRAUX, A, SAUDUBRAY, JM, Fourmaintraux, A., Baumgartner, Matthias R; https://orcid.org/, Wanders, R J A, Saudubray, J M, BAUMGARTNER, MR, Espeel, Marc, BELLET, H, MOOYER, P, Jansen, G. A., Bellet, H., Saudubray, J. M., Jakobs, C., Roels, F, Roels, FrankUGent801000072304971020167891FC5A0D0C-F0ED-11E1-A9DE-61C894A0A6B4, Baumgartner, M. R., Wanders, R. J.   +31 more
core   +1 more source

ω-Hydroxylation of phytanic acid in rat liver microsomes

Journal of Lipid Research, 2004
The 3-methyl-branched fatty acid phytanic acid is degraded by the peroxisomal α-oxidation route because the 3-methyl group blocks β-oxidation. In adult Refsum disease (ARD), peroxisomal α-oxidation is defective, which is caused by mutations in the gene ...
J.C. Komen, M. Duran, R.J.A. Wanders
doaj   +1 more source

Vitamin B12 and Reproductive Health: Clinical Insights, Emerging Mechanistic Understanding, and Nutritional Aspects

Molecular Reproduction and Development, Volume 93, Issue 2, February 2026.
ABSTRACT Epidemiological data from assisted reproductive technologies (ART) link vitamin B12 (VitB12) deficiency to shorter gestation, low birth weight, and reduced live birth rates. VitB12 also plays a critical role in fertility for both sexes by supporting gamete quality.
Aimee Rachel Mathew, Erisa Selita, Chiara Regano, Claudia Bianco, Veronica Corsetti, Virve Cavallucci, Sandra Moreno, Ada Maria Tata, Marco Fidaleo   +8 more
wiley   +1 more source