Results 31 to 40 of about 7,333,851 (157)

A de novo large deletion of 2.8 kB produced in ABCD1 gene causing Adrenoleukodystrophy disease

Biochemistry and cell biology = Biochimie et biologie cellulaire, 2016
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP.
Tebib, Neji, Ben Chehida, Amel, Ben Turkia, Hadhami, Tabebi, Mouna, Felhi, Rahma, Keskes, Leila, Kallabi, Fakhri, Ben Salah, Ghada, Kamoun, Hassen   +8 more
core   +2 more sources

A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report. [PDF]

Medicine (Baltimore)
Rationale: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene leading to very long chain fatty acid (VLCFA) accumulation. The disease demonstrates a spectrum of phenotypes including adrenomyeloneuropathy (AMN).
Liu J, Wang X, Huang D, Qi Y, Xu L, Shao Y.   +5 more
europepmc   +2 more sources

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

Human Mutation, 2001
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, which encodes a peroxisomal ABC half-transporter (ALDP) involved in the import of very long-chain fatty acids (VLCFA) into the peroxisome.
Stephan Kemp, Aurora Pujol, Hans R Waterham   +2 more
exaly   +2 more sources

Adult-onset cerebral X-linked adrenoleukodystrophy presenting with frontal lobe syndrome caused by a de novo <i>ABCD1</i> gene mutation (c.1415_1416delAG, p.Gln472fs*83). [PDF]

Neurol Perspect
X-linked adrenoleukodystrophy is an uncommon genetic disorder characterized by impaired peroxisomal very-long-chain fatty acids (VLCFAs) beta-oxidation. 1–5 Mutations in the ABCD1 gene on the X chromosome are responsible for X-linked adrenoleukodystrophy.
Ghosh R, León-Ruiz M, Jana A, Dubey S, Benito-León J.   +4 more
europepmc   +2 more sources

Novel ABCD1 mutation detected in a symptomatic female carrier of adrenoleukodystrophy [PDF]

, 2022
X-linked adrenoleukodystrophy (ALD) is a major peroxisomal disorder, in which abnormal accumulation of very long-chain fatty acids (VLCFA) caused by ABCD1 gene mutation results in damage to the peripheral and central nervous system and adrenal gland ...
Fukui, Yusuke, Nakano, Yumiko, Tadokoro, Koh, Yamashita, Toru, Morihara, Ryuta, Sasaki, Ryo, Takemoto, Mami, Shimozawa, Nobuyuki, Taira, Yuki, Nomura, Emi, Yunoki, Taijun   +10 more
core   +2 more sources

Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease. [PDF]

Endocrinol Metab (Seoul), 2020
X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1).
Cho YK, Lee SY, Kim SW.
europepmc   +2 more sources

From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy. [PDF]

Lipids in Health and Disease
X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder caused by ABCD1 mutations, resulting in the buildup of very-long-chain fatty acids, leading to significant neurological decline and adrenal insufficiency.
Chen, Zeyu, Zeyu Chen, Zuo, Xinxin, Xinxin Zuo   +3 more
core   +5 more sources

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

A large family with p.Arg554his mutation in abcd1: Clinical features and genotype/phenotype correlation in female carriers [PDF]

, 2021
X-linked adrenoleukodystrophy (X-ALD, OMIM #300100) is the most common peroxisomal disorder clinically characterized by two main phenotypes: Adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD). The disease is caused by
Campopiano R., Fornai F., Gambardella S., D'Alessio C, D'Alessio C., Storto M., Giardina E., Centonze D., Centonze D, Chiaravalloti MA, Fornai F, Femiano C, Campopiano R, Ferese R, Biagioni F, Biagioni F., Zampatti S., Fanelli M., Femiano C., Buttari F., Buttari F, Ferese R., Fanelli M, Giardina E, Storto M, Amatori S., Amatori S, Zampatti S, Chiaravalloti M. A.   +28 more
core   +2 more sources

A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

, 2021
Adrenomyeloneuropathy (AMN) is a kind of varied disease caused by ABCD1 gene mutation and characterized by very-long-chain fatty acids (VLCFA) accumulation. It is diagnosed by clinical features, high VLCFAs levels and ABCD1 gene mutation.
Zhenguo Liu, Xinghua Tang, Lu Song, Yu Zhang, Guoyong Zhang, Zheng Pu, Wenhui Chen   +6 more
core   +1 more source