Results 41 to 50 of about 3,353 (190)

A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein [PDF]

, 2012
We diagnosed an adrenomyeloneuropathy (AMN) patient with a double novel missense mutation, c.284C>A (p.A95D) and c.290A>T (p.H97L) in a single ABCD1 allele. In skin fibroblasts from the patient, no ABCD1 protein was detected by immunoblot analysis, and the C24:0 β-oxidation activity was decreased to a level at which the ABCD1 protein was absent.
Masashi, Morita, Junpei, Kobayashi, Kozue, Yamazaki, Kosuke, Kawaguchi, Ayako, Honda, Kenji, Sugai, Nobuyuki, Shimozawa, Reiji, Koide, Tsuneo, Imanaka   +8 more
openaire   +2 more sources

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature

International Journal of Endocrinology, 2022
Background. X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal metabolism disorder, resulting from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 (ABCD1) gene.
Bingzi Dong, Wenshan Lv, Lili Xu, Yuhang Zhao, Xiaofang Sun, Zhongchao Wang, Bingfei Cheng, Zhengju Fu, Yangang Wang   +8 more
doaj   +1 more source

Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1

Journal of Clinical Medicine, 2023
Cerebral adrenoleukodystrophy (CALD) is a fatal genetic disease characterized by rapid, devastating neurological decline, with a narrow curative treatment window in the early stage. Non-canonical splice-site (NCSS) variants can easily be missed during genomic DNA analyses, and only a few of them in ABCD1 have been explored.
Zheng, Feixia, Lin, Zhongdong, Hu, Ying, Shi, Xulai, Zhao, Qianlei, Lin, Zhenlang   +5 more
openaire   +2 more sources

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

Molecular Genetics and Metabolism Reports, 2022
Background: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by variants in the ABCD1 gene and can lead to Addison disease, childhood cerebral ALD, or adrenomyeloneuropathy.
Hui-An Chen, Rai-Hseng Hsu, Pin-Wen Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien   +6 more
doaj   +1 more source

Investigation of the import of the fatty acid transporter protein ABCD1 into the peroxisomal membrane

, 2023
Die vorliegende Arbeit beschäftigt sich mit unterschiedlichen Fragmenten und Mutationen des ATP-Bindungskassetten-Transporter Proteins der Subfamilie D ABCD1, welches als peroxisomales Membranprotein für den Import von unverzweigten, sehr langkettigen ...
Mader, Victoria
core   +2 more sources

Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment

Communications Biology, 2022
Le et al. present cryo-EM structures of the peroxisomal very long chain fatty acid (VLCFA) transporter ABCD1 in phospholipid nanodiscs in a nucleotide-bound conformation open to the peroximsomal lumen and a conformation open to the cytosol.
Le Thi My Le, James Robert Thompson, Phuoc Xuan Dang, Janarjan Bhandari, Amer Alam   +4 more
doaj   +1 more source

Profiling and Imaging of Phospholipids in Brains of Abcd1‐Deficient Mice [PDF]

Lipids, 2018
AbstractABCD1 is a gene responsible for X‐linked adrenoleukodystrophy (X‐ALD), and is critical for the transport of very long‐chain fatty acids (VLCFA) into peroxisomes and subsequent β‐oxidation. VLCFA‐containing lipids accumulate in X‐ALD patients, although the effect of ABCD1‐deficiency on each lipid species in the central nervous system has not ...
Kotaro, Hama, Yuko, Fujiwara, Masashi, Morita, Fumiyoshi, Yamazaki, Yuko, Nakashima, Shiro, Takei, Shigeo, Takashima, Mitsutoshi, Setou, Nobuyuki, Shimozawa, Tsuneo, Imanaka, Kazuaki, Yokoyama   +10 more
openaire   +3 more sources

Downregulation of Abcd1 in Human Renal Cell Carcinoma

, 2011
Renal cell carcinoma (RCC) is the most common malignant tumor of the kidney. Delayed diagnosis may result in progression and metastasis. Markers for early detection of RCC are lacking.
HOUR, TZYH-CHYUAN;KUO, YI-ZIH;LIU, GUANG-YAW;KANG, WANG-YI;HUANG, CHAO-YUAN;TSAI, YU-CHIEH;WU, WEN-JENG;HUANG, SHU-PIN;PU, YEONG-SHIAU, 侯自銓;郭怡孜;劉光耀;康婉儀;黃昭淵;蔡育傑;吳文正;黃書彬;蒲永孝   +1 more
core   +1 more source

Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability

Frontiers in Neurology, 2022
ObjectivesThis study aimed to describe the clinical and radiological characteristics of a cerebello-brainstem dominant form of X-linked adrenoleukodystrophy (X-ALD).MethodsThree affected members from a family with cerebellar ataxia received full ...
Jae-Hwan Choi, Jae-Hwan Choi, Hyun Sung Kim, Eun Hye Oh, Jae Hyeok Lee, Jae Hyeok Lee, Chong Kun Cheon, Chong Kun Cheon   +7 more
doaj   +1 more source

A Novel Mutation of the ABCD1 Gene in Serbian X-Adrenoleukodystrophy [PDF]

Balkan Journal of Medical Genetics, 2008
A Novel Mutation of the ABCD1 Gene in Serbian X-AdrenoleukodystrophyX-linked adrenoleukodystrophy (XALD), the most common inherited peroxisomal disorder, is characterized by central nervous system demyelination, primary adrenal failure and the systemic accumulation of saturated very long chain fatty acids (VLCFAs).
Grkovic S, Nikolic R, Djordjevic M, Puzigaca Z, Vujic D, Ilic P   +5 more
openaire   +2 more sources