Results 31 to 40 of about 2,524,227 (174)

Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene. [PDF]

Appl Clin Genet, 2021
Adrenoleukodystrophy (ALD) is a rare sex-linked recessive disorder that disrupts adrenal gland function and the white matter of the nervous system. According to recent epidemiological statistics, up to this moment, the disease is the most recorded peroxisomal disorder.
Trinh The S, Trieu Tien S, Vu Van T, Nguyen Ngoc N, Tran Ngoc Thao M, Tran Van K, Vu Nhat D, Do Nhu B.   +7 more
europepmc   +6 more sources

A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report. [PDF]

Medicine (Baltimore), 2018
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, which is inherited as an X-linked recessive trait. ATP binding cassette subfamily D member 1 (ABCD1) localized to Xq28 is the only gene associated with ALD.We report a case of Chinese boy with childhood cerebral ALD, who began experiencing symptoms at the age of 5 years and ...
Wang J, Zhu Q, Liu H.
europepmc   +3 more sources

Expanded Umbilical Cord Blood Transplantation in Cerebral X-Linked Adrenoleukodystrophy: A Case Report. [PDF]

EJHaem
ABSTRACT Umbilical cord blood transplantation is a viable source of stem cells due to accessibility and low incidence of chronic graft‐versus‐host disease despite human‐leukocyte‐antigen mismatching. Disadvantages of low stem cell dose in larger recipients include delayed immune reconstitution, graft rejection, and mortality.
Granberg RE, Pfeiffer T, Sansar S, Galindo R, Shenoy S.   +4 more
europepmc   +2 more sources

Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort. [PDF]

J Clin Lab Anal
Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Blas SM, Pujalte SP, Álvarez AM, Ríos AIÁ, Cabello BM, Moreno CN, Gila ALG, Fuentes ED, Moreno EV, Pecellín CD.   +9 more
europepmc   +2 more sources

Peroxisomal Lipid Metabolism as a Therapeutic Target in Leukemia. [PDF]

Mol Nutr Food Res
Peroxisomes are emerging as key regulators of lipid metabolism in leukemia. Enhanced metabolism of very‐long‐chain fatty acids (VLCFAs) supports leukemia cell survival, redox homeostasis, and therapeutic resistance. Pharmacologic disruption of peroxisomal fatty acid oxidation causes VLCFA accumulation, oxidative stress, and mitochondrial dysfunction ...
Parfenova EN, Spagnuolo PA.
europepmc   +2 more sources

Generation of a WA14 hESC sub-line carrying a hemizygous ABCD1 (C.1696_1710 del) mutation introduced by CRISPR/Cas9 technology

Stem Cell Research, 2021
ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene is a member of ABC transporter super family, which conduct peroxisomal import of very long chain fatty acid and crucial underlying factor that induces X-linked adrenoleukodystrophy (X-ALD)
Wonjun Hong, Wonjin Yun, Wonji Choi, Daryeon Son, Gwonhwa Song, Seungkwon You   +5 more
doaj   +1 more source

ANALYSIS OF THE FAMILY OF A PATIENT WITH X-LINKED ADRENOLEUKODYSTROPHY AND LITERATURE REVIEW [PDF]

精准医学杂志, 2023
Objective To analyze the mutation site in the ATP-binding cassette subfamily D member 1 gene (ABCD1) in the family of a patient with X-linked adrenoleukodystrophy (X-ALD), and to explore the diagnosis, treatment, and prognosis of X-ALD based on the ...
JIANG Jing, JIN Yang, WU Yujiao, LIU Xuewu
doaj   +1 more source

ABCD2 is a direct target of β-catenin and TCF-4: implications for X-linked adrenoleukodystrophy therapy. [PDF]

PLoS ONE, 2013
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene that encodes the peroxisomal ATP-binding cassette (ABC) transporter subfamily D member 1 protein (ABCD1), which is referred to as the ...
Chul-Yong Park, Han-Soo Kim, Jiho Jang, Hyunji Lee, Jae Souk Lee, Jeong-Eun Yoo, Dongjin R Lee, Dong-Wook Kim   +7 more
doaj   +1 more source

Generation of an urine-derived induced pluripotent stem cell line from a 6-year old X-linked adrenoleukodystrophy (X-ALD) patient

Stem Cell Research, 2021
The gene mutations of the ATP-binding-cassette transporter subfamily D member 1 (ABCD1) can lead to the inherited neuro-metabolic malfunction disease X-linked adrenoleukodystrophy (X-ALD).
Long Wang, Beibei Gao, Xuming Mo, Xiaoling Guo, Jinyu Huang   +4 more
doaj   +1 more source

Hexacosenoyl-CoA is the most abundant very long-chain acyl-CoA in ATP binding cassette transporter D1-deficient cells[S]

Journal of Lipid Research, 2020
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by deleterious mutations in the ABCD1 gene. The ABCD1 protein transports very long-chain FAs (VLCFAs) from the cytosol into the peroxisome where the VLCFAs are degraded through β ...
Kotaro Hama, Yuko Fujiwara, Shigeo Takashima, Yasuhiro Hayashi, Atsushi Yamashita, Nobuyuki Shimozawa, Kazuaki Yokoyama   +6 more
doaj   +1 more source