keyword
MENU ▼
Read by QxMD icon Read
search

ABCD1

keyword
https://www.readbyqxmd.com/read/29152099/s149r-a-novel-mutation-in-the-abcd1-gene-causing-x-linked-adrenoleukodystrophy
#1
Fang Yan, Wenbo Wang, Hui Ying, Hongyu Li, Jing Chen, Chao Xu
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very long-chain fatty acids. For the first time, we report a case of olivopontocerebellar X-ALD on the Chinese mainland. In this study, a novel mutation (c.447T>A; p.S149R) in ABCD1 was detected in a patient diagnosed with X-ALD...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29136088/abcd1-dysfunction-alters-white-matter-microvascular-perfusion
#2
Arne Lauer, Xiao Da, Mikkel Bo Hansen, Gregoire Boulouis, Yangming Ou, Xuezhu Cai, Afonso Liberato Celso Pedrotti, Jayashree Kalpathy-Cramer, Paul Caruso, Douglas L Hayden, Natalia Rost, Kim Mouridsen, Florian S Eichler, Bruce Rosen, Patricia L Musolino
Cerebral X-linked adrenoleukodystrophy is a devastating neurodegenerative disorder caused by mutations in the ABCD1 gene, which lead to a rapidly progressive cerebral inflammatory demyelination in up to 60% of affected males. Selective brain endothelial dysfunction and increased permeability of the blood-brain barrier suggest that white matter microvascular dysfunction contributes to the conversion to cerebral disease. Applying a vascular model to conventional dynamic susceptibility contrast magnetic resonance perfusion imaging, we demonstrate that lack of ABCD1 function causes increased capillary flow heterogeneity in asymptomatic hemizygotes predominantly in the white matter regions and developmental stages with the highest probability for conversion to cerebral disease...
November 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29128817/generation-of-induced-pluripotent-stem-cell-ipsc-line-from-a-21-year-old-x-linked-adrenoleukodystrophy-x-ald-patient
#3
Young Rang You, Daryeon Son, Phil Jun Kang, Seungkwon You, Dae-Sung Kim
X-linked Adrenoleukodystrophy (X-ALD) is a genetic disease that caused by mutations in adenosine triphosphate [ATP]-binding-cassette transporter superfamily D member 1 (ABCD1) gene. We generated an induced pluripotent stem cell (iPSC) line from a 21-year-old male X-ALD patient-derived fibroblasts by Sendai virus mediated reprogramming. Established iPSCs stably expanded while maintaining immunoreactivity for various pluripotency markers and alkaline phosphatase, as well as normal 44+XY karyotype. Under the differentiation condition, the cells gave rise to cells of three germ layers...
November 9, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29116030/management-of-x-linked-adrenoleukodystrophy-in-morocco-actual-situation
#4
F Z Madani Benjelloun, Y Kriouile, D Cheillan, H Daoud-Tetouani, L Chabraoui
OBJECTIVES: X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of the first program of diagnosis, treatment, and follow-up of this disease in Morocco. RESULTS: We developed three protocols of X-linked Adrenoleukodystrophy management: general protocol, asymptomatic protocol, and heterozygous protocol...
November 7, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29089175/comparison-of-c26-0-carnitine-and-c26-0-lysophosphatidylcholine-as-diagnostic-markers-in-dried-blood-spots-from-newborns-and-patients-with-adrenoleukodystrophy
#5
Irene C Huffnagel, Malu-Clair van de Beek, Amanda L Showers, Joseph J Orsini, Femke C C Klouwer, Inge M E Dijkstra, Peter C Schielen, Henk van Lenthe, Ronald J A Wanders, Frédéric M Vaz, Mark A Morrissey, Marc Engelen, Stephan Kemp
X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth incidence of 1:14,700 live births. The disease is caused by mutations in ABCD1 and characterized by very long-chain fatty acids (VLCFA) accumulation. In childhood, male patients are at high-risk to develop adrenal insufficiency and/or cerebral demyelination. Timely diagnosis is essential. Untreated adrenal insufficiency can be life-threatening and hematopoietic stem cell transplantation is curative for cerebral ALD provided the procedure is performed in an early stage of the disease...
October 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29065337/generation-of-two-induced-pluripotent-stem-cell-ipsc-lines-from-x-linked-adrenoleukodystrophy-x-ald-patients-with-adrenomyeloneuropathy-amn
#6
Daryeon Son, Zhejiu Quan, Phil Jun Kang, Gyuman Park, Hoon-Chul Kang, Seungkwon You
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene. We generated two induced pluripotent stem cell (iPSC) lines from X-ALD patients with adrenomyeloneuropathy (AMN) by Sendai virus containing OCT4, SOX2, KLF4 and c-MYC. Established iPSC lines expressed various pluripotency markers, had differentiation potential of three germ layers in vitro, had normal karyotype and retained ABCD1 mutation.
October 12, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29059709/microglial-dysfunction-as-a-key-pathological-change-in-adrenomyeloneuropathy
#7
Yi Gong, Nikhil Sasidharan, Fiza Laheji, Matthew Frosch, Patricia Musolino, Rudy Tanzi, Doo Yeon Kim, Alessandra Biffi, Joseph El Khoury, Florian Eichler
OBJECTIVE: Mutations in ABCD1 cause the neurodegenerative disease, adrenoleukodystrophy, which manifests as the spinal cord axonopathy adrenomyeloneuropathy (AMN) in nearly all males surviving into adulthood. Microglial dysfunction has long been implicated in pathogenesis of brain disease, but its role in the spinal cord is unclear. METHODS: We assessed spinal cord microglia in humans and mice with AMN and investigated the role of ABCD1 in microglial activity toward neuronal phagocytosis in cell culture...
October 23, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28976817/hematopoietic-stem-cell-gene-therapy-for-cerebral-adrenoleukodystrophy
#8
MULTICENTER STUDY
Florian Eichler, Christine Duncan, Patricia L Musolino, Paul J Orchard, Satiro De Oliveira, Adrian J Thrasher, Myriam Armant, Colleen Dansereau, Troy C Lund, Weston P Miller, Gerald V Raymond, Raman Sankar, Ami J Shah, Caroline Sevin, H Bobby Gaspar, Paul Gissen, Hernan Amartino, Drago Bratkovic, Nicholas J C Smith, Asif M Paker, Esther Shamir, Tara O'Meara, David Davidson, Patrick Aubourg, David A Williams
BACKGROUND: In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. Disease progression, which leads to loss of neurologic function and death, can be halted only with allogeneic hematopoietic stem-cell transplantation. METHODS: We enrolled boys with cerebral adrenoleukodystrophy in a single-group, open-label, phase 2-3 safety and efficacy study...
October 26, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28919002/x-linked-adrenoleukodystrophy-in-a-chimpanzee-due-to-an-abcd1-mutation-reported-in-multiple-unrelated-humans
#9
Julian Curiel, Steven Jeffrey Steinberg, Sarah Bright, Ann Snowden, Ann B Moser, Florian Eichler, Holly A Dubbs, Joseph G Hacia, John J Ely, Jocelyn Bezner, Alisa Gean, Adeline Vanderver
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder leading to the accumulation of very long chain fatty acids (VLCFA) due to a mutation in the ABCD1 gene. ABCD1 mutations lead to a variety of phenotypes, including cerebral X-ALD and adrenomyeloneuropathy (AMN) in affected males and 80% of carrier females. There is no definite genotype-phenotype correlation with intrafamilial variability. Cerebral X-ALD typically presents in childhood, but can also present in juveniles and adults...
September 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28911205/a-zebrafish-model-of-x-linked-adrenoleukodystrophy-recapitulates-key-disease-features-and-demonstrates-a-developmental-requirement-for-abcd1-in-oligodendrocyte-patterning-and-myelination
#10
Lauren R Strachan, Tamara J Stevenson, Briana Freshner, Matthew D Keefe, D Miranda Bowles, Joshua L Bonkowsky
X-linked adrenoleukodystrophy (ALD) is a devastating inherited neurodegenerative disease caused by defects in the ABCD1 gene and affecting peripheral and central nervous system myelin. ABCD1 encodes a peroxisomal transmembrane protein required for very long chain fatty acid (VLCFA) metabolism. We show that zebrafish (Danio rerio) Abcd1 is highly conserved at the amino acid level with human ABCD1, and during development is expressed in homologous regions including the central nervous system and adrenal glands...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28895702/-x-linked-adrenoleukodystrophy-a-report-of-three-cases-the-importance-of-early-diagnosis
#11
Marta López Úbeda, Antonio de Arriba Muñoz, Marta Ferrer Lozano, José I Labarta Aizpún, María C García Jiménez
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. This disease is caused by a defect in the ABCD1 gen. Saturated very long chain fatty acids are accumulated in serum, adrenal cortex and central nervous system white matter. The clinical spectrum is characterized by progressive neurological dysfunction and adrenal insufficiency with a devastating prognosis. We report a first case of X-linked adrenoleukodystrophy with fatal evolution which identified two asymptomatic family members and established a preventive treatment...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28737695/predictive-structure-and-topology-of-peroxisomal-atp-binding-cassette-abc-transporters
#12
Pierre Andreoletti, Quentin Raas, Catherine Gondcaille, Mustapha Cherkaoui-Malki, Doriane Trompier, Stéphane Savary
The peroxisomal ATP-binding Cassette (ABC) transporters, which are called ABCD1, ABCD2 and ABCD3, are transmembrane proteins involved in the transport of various lipids that allow their degradation inside the organelle. Defective ABCD1 leads to the accumulation of very long-chain fatty acids and is associated with a complex and severe neurodegenerative disorder called X-linked adrenoleukodystrophy (X-ALD). Although the nucleotide-binding domain is highly conserved and characterized within the ABC transporters family, solid data are missing for the transmembrane domain (TMD) of ABCD proteins...
July 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28666219/lipid-induced-endoplasmic-reticulum-stress-in-x-linked-adrenoleukodystrophy
#13
Malu-Clair van de Beek, Rob Ofman, Inge Dijkstra, Frits Wijburg, Marc Engelen, Ronald Wanders, Stephan Kemp
X-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease that is caused by mutations in the ABCD1 gene and characterized by elevated levels of very long-chain fatty acids (VLCFA) in plasma and tissues, with the most pronounced increase in the central nervous system. Virtually all male patients develop adrenal insufficiency and myelopathy (adrenomyeloneuropathy), but a subset develops a fatal cerebral demyelinating disease (known as cerebral ALD). Female patients may also develop myelopathy, but adrenal insufficiency or leukodystrophy are very rare...
June 27, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28601575/a-novel-mutation-in-abcd1-unveils-different-clinical-phenotypes-in-a-family-with-adrenoleukodystrophy
#14
M Margoni, F Soli, A Sangalli, M Bellizzi, E Cecchini, M Buganza
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is the consequence of mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids. We describe a family with six members carrying a novel heterozygous mutation IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene, highlighting the wide range of phenotypic manifestations of ALD and the importance of genetic screening before any pregnancy in asymptomatic women whose carrier status is unknown...
June 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28560570/effect-of-lorenzo-s-oil-on-hepatic-gene-expression-and-the-serum-fatty-acid-level-in-abcd1-deficient-mice
#15
Masashi Morita, Ayako Honda, Akira Kobayashi, Yuichi Watanabe, Shiro Watanabe, Kosuke Kawaguchi, Shigeo Takashima, Nobuyuki Shimozawa, Tsuneo Imanaka
Lorenzo's oil is known to decrease the saturated very long chain fatty acid (VLCFA) level in the plasma and skin fibroblasts of X-linked adrenoleukodystrophy (ALD) patients. However, the involvement of Lorenzo's oil in in vivo fatty acid metabolism has not been well elucidated. To investigate the effect of Lorenzo's oil on fatty acid metabolism, we analyzed the hepatic gene expression together with the serum fatty acid level in Lorenzo's oil-treated wild-type and abcd1-deficient mice. The change in the serum fatty acid level in Lorenzo's oil-treated abcd1-defcient mice was quite similar to that in the plasma fatty acid level in ALD patients supplemented with Lorenzo's oil...
May 31, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28493141/therapeutic-strategies-in-adrenoleukodystrophy
#16
Bela R Turk, Ann B Moser, Ali Fatemi
Adrenoleukodystrophy (ALD) is an X‑linked hereditary disorder due to mutations of the ABCD1 gene, which encodes a peroxisomal transport protein necessary for very long-chain fatty acid degradation (VLCFA). Toxic accumulation thereof is associated with a proinflammatory state and eventual cell death in multiple tissues. ALD may manifest either as a fatal, rapidly progressive demyelinating disease in boys and adult men, or as a slowly progressive adult-onset long-tract myelopathy along with peripheral neuropathy...
June 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28481932/unmasking-adrenoleukodystrophy-in-a-cohort-of-cerebellar-ataxia
#17
Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong
Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene (ABCD1) were ascertained in 516 unrelated patients with ataxia. The patients were categorized into three groups: molecularly unassigned hereditary ataxia (n = 118), sporadic ataxia with autonomic dysfunctions (n = 296), and sporadic ataxia without autonomic dysfunctions (n = 102)...
2017: PloS One
https://www.readbyqxmd.com/read/28456143/a-first-case-of-adrenomyeloneuropathy-with-mutation-y174s-of-the-adrenoleukodystrophy-gene
#18
Yukio Horikawa, Mayumi Enya, Nobuaki Yoshikura, Junichi Kitagawa, Shigeo Takashima, Nobuyuki Shimozawa, Jun Takeda
The patient first noticed spasticity and weakness in his legs. He was diagnosed with chronic myelogenous leukemia (CML); the symptoms were attributed to neuropathy associated with CML. By treatment with dasatinib, he achieved complete hematological remission, but his difficulty in walking was not improved. His neurological symptom worsened together with an increase in body temperature and then disappeared together with a normalized body temperature, which may be attributed to the Uhthoff's phenomenon often observed in multiple sclerosis...
February 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28409470/flow-cytometric-analysis-of-the-expression-pattern-of-peroxisomal-proteins-abcd1-abcd2-and-abcd3-in-bv-2-murine-microglial-cells
#19
Meryam Debbabi, Thomas Nury, Imen Helali, El Mostafa Karym, Flore Geillon, Catherine Gondcaille, Doriane Trompier, Amina Najid, Sébastien Terreau, Maryem Bezine, Amira Zarrouk, Anne Vejux, Pierre Andreoletti, Mustapha Cherkaoui-Malki, Stéphane Savary, Gérard Lizard
Microglial cells play important roles in neurodegenerative diseases including peroxisomal leukodystrophies. The BV-2 murine immortalized cells are widely used in the context of neurodegenerative researches. It is therefore important to establish the expression pattern of peroxisomal proteins by flow cytometry in these cells. So, the expression pattern of various peroxisomal transporters (Abcd1, Abcd2, Abcd3) contributing to peroxisomal β-oxidation was evaluated on BV-2 cells by flow cytometry and complementary methods (fluorescence microscopy, and RT-qPCR)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28370438/differential-activities-of-peroxisomes-along-the-mouse-intestinal-epithelium
#20
Petruta L Morvay, Myriam Baes, Paul P Van Veldhoven
The presence of peroxisomes in mammalian intestine has been revealed formerly by catalase staining combined with electron microscopy. Despite the central role of intestine in lipid uptake and the established importance of peroxisomes in different lipid-related pathways, few data are available on the physiological role of peroxisomes in intestinal metabolism, more specifically, α-, β-oxidation, and etherlipid synthesis. Hence, the peroxisomal compartment was analyzed in more detail in mouse intestine. On the basis of immunohistochemistry, the organelles are mainly confined to the epithelial cells...
April 2017: Cell Biochemistry and Function
keyword
keyword
42989
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"