Results 41 to 50 of about 7,333,851 (157)

ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis

, 2023
X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the peroxisomal transporter ABCD1, resulting in the accumulation of very long-chain fatty acids (VLCFA).
Sonja Forss-Petter, Peter Kim, Mark Lassnig, Stephan Kemp, Isabelle Weinhofer, Petra Waidhofer-Söllner, Yorrick Jaspers, Agnieszka Buda, Rong Hua, Johannes Berger   +9 more
core   +1 more source

Silencing of Abcd1 and Abcd2 genes sensitizes astrocytes for inflammation: implication for X-adrenoleukodystrophy [PDF]

Journal of Lipid Research, 2009
X-linked adrenoleukodystrophy is a metabolic disorder arising from a mutation/deletion in the ABCD1 gene, leading to a defect in the peroxisomal adrenoleukodystrophy protein (ALDP), which inhibits the oxidation of very long chain fatty acids (VLCFAs). Thus, these VLCFAs accumulate.
Jaspreet Singh, Mushfiquddin Khan, Inderjit Singh   +2 more
openaire   +3 more sources

Results of computational analysis for missense changes in ABCD1 gene from Argentinean patients.

, 2013
Results of computational analysis for missense changes in ABCD1 gene from Argentinean patients.
Cyntia Anabel Amorosi (290973), Raquel Dodelson de Kremer (147711), Ana María Oller de Ramírez (290982), Carlos Enrique Argaraña (290977), Lenka Dvoráková (5651470), Mariela Roxana Monti (290975), Stephan Kemp (149646), Masashi Morita (290979), Helena Myskóva (290974)   +8 more
core   +1 more source

Additional file 2 of Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy

, 2023
Additional file 2: Figure S1. Old Abcd1 KO mice show no signs of overt pathology in the corpus callosum. Figure S2. Abcd1 KO mice exhibit the expected response to acute cuprizone intoxication. Figure S3.
Johannes Berger (6439), Ksenija Martinović (16389343), Jan Bauer (517032), Sonja Forss-Petter (188101), Markus Kunze (6438)   +4 more
core   +1 more source

Generation of two human induced pluripotent stem cell lines derived from two X-linked adrenoleukodystrophy patients with ABCD1 mutations [PDF]

, 2021
Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD were ...
Noguchi, Michiya, Yukio Nakamura, Asaka, Isao, Isao Asaka, Wakabayashi, Tamami, Michiya Noguchi, Saito, Megumu K., Inoue, Jun, Nakamura, Yukio, Hayashi, Yohei, Matsuo-Takasaki, Mami, Tomonari Awaya, Hemmi, Yasuko, Mami Matsuo-Takasaki, Yohei Hayashi, Jingyue Li, Li, Jingyue, Kazunori Akimoto, Awaya, Tomonari, An, Yuri, Takami, Miho, Akimoto, Kazunori, Jun Inoue, Yutaka Arai, Yuri An, Arai, Yutaka, Yuji Kuramochi, Tamami Wakabayashi, Yasuko Hemmi, Miho Takami, Megumu K. Saito, Kuramochi, Yuji   +31 more
core   +1 more source

Genetic analysis of the X-linked Adrenoleukodystrophy ABCD1 gene in Drosophila uncovers a role in Peroxisomal dynamics

bioRxiv
X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids ...
J. Manor, Sharayu V. Jangam, Hyung-lok Chung, Pranjali Bhagwat, Jonathan C. Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B. Moser, Suzette M. Huguenin, M. Wangler   +11 more
semanticscholar   +1 more source

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

, 2015
The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy.
van de Kamp, J.M., Errami, A, Osaka, H, Salomons, GS, Mancini, G.M., Steinberg, S.J., Osaka, H., Winter, S, Winter, S., Phalin-Roque, J, A. Errami, Howidi, M., van Dooren, S.J.M., Howidi, M, Steinberg, SJ, H. Osaka, J.M. van de Kamp, Salomons, G., S.J. Steinberg, I. Anselm, G.M. Mancini, van de Kamp, JM, Verheijen - Mancini, Grazia, Anselm, I., J. Phalin‐Roque, S.J.M. van Dooren, van Dooren, SJM, S. Winter, G.S. Salomons, Errami, A., Phalin-Roque, J., M. Howidi, Anselm, I   +32 more
core   +1 more source

O-10 ABCD1 GENE MUTATION IN AN IRANIAN FAMILY WITH X-LINKED ADRENOLEUKODYSTROPHY AND DIVERSE CLINICAL MANIFESTATIONS [PDF]

JCEM Case Rep
Introduction A hereditary condition known as X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, which is found at the Xq28 locus.
M. Alimardani, Nadia Shapouri, M. Abbaszadegan, Zohreh Mousavi, R. A. Mahmoudian, Solmaz Asani   +5 more
europepmc   +2 more sources

Histone deacetylase inhibitor upregulates peroxisomal fatty acid oxidation and inhibits apoptotic cell death in abcd1-deficient glial cells. [PDF]

, 2013
In X-ALD, mutation/deletion of ALD gene (ABCD1) and the resultant very long chain fatty acid (VLCFA) derangement has dramatically opposing effects in astrocytes and oligodendrocytes.
Inderjit Singh, Jaspreet Singh, Mauhamad Baarine, Mushfiquddin Khan, Aurora Pujol   +4 more
core   +2 more sources

Energetic stress in combination with impaired fatty acid oxidation induces sequestration of CoA and adaptation of CoA metabolism

The FEBS Journal, EarlyView.
Computational modelling and in vitro liver cell experiments indicate that medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency causes an accumulation of (especially medium‐chain) acyl‐CoAs at the cost of free CoA (CoASH). A substantial decrease in CoASH impairs flux through many pathways essential for energy homeostasis.
Ligia Akemi Kiyuna, Christoff Odendaal, Madhulika Singh, Albert Gerding, Miriam Langelaar‐Makkinje, Marianne van der Zwaag, Asmara Drachman, Vladimíra Cetkovská, Gaby Liem Foeng Kioen, Anne‐Claire M. F. Martines, Nicolette C. A. Huijkman, Hein Schepers, Bart van de Sluis, Dirk‐Jan Reijngoud, Ody C. M. Sibon, Amy C. Harms, Thomas Hankemeier, Barbara M. Bakker   +17 more
wiley   +1 more source