scholarly journals ABCD1 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Abcd1 Gene

scholarly journals Isolated Cerebellar Variant of Adrenoleukodystrophy with ade novoAdenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation

2014 ◽  
Vol 55 (4) ◽  
pp. 1157 ◽  
Author(s):  
Joon Won Kang ◽  
Sang Mi Lee ◽  
Kyo Yeon Koo ◽  
Young-Mock Lee ◽  
Hyo Suk Nam ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Abcd1 Gene

scholarly journals A Man with Adult-onset Progressive Spastic Paraparesis: Genetically Confirmed as Novel Mutation of ABCD1 Gene

2018 ◽  
Vol 36 (1) ◽  
pp. 31-34
Author(s):  
Byeol A Yoon ◽  
Jisun Kim ◽  
Geum Bong Lee ◽  
Jae Woo Kim ◽  
Sang-Myung Cheon
Keyword(s):  
Novel Mutation ◽  
Spastic Paraparesis ◽  
Adult Onset ◽  
Abcd1 Gene

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

2019 ◽  
Vol 32 (11) ◽  
pp. 1207-1215
Author(s):  
Babak Emamalizadeh ◽  
Yousef Daneshmandpour ◽  
Abbas Tafakhori ◽  
Sakineh Ranji-Burachaloo ◽  
Sajad Shafiee ◽  
...  
Keyword(s):  
Protein Structure ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Protein Product ◽  
Structure And Function ◽  
Novel Mutations ◽  
Chain Reaction ◽  
Abcd1 Gene ◽  
Polymerase Chain ◽  
And Function

Abstract Background X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families. Methods Four pedigrees with X-ALD consisting of patients and healthy members were selected for investigation of ABCD1 gene mutations. The mutation analysis was performed by polymerase chain reaction (PCR) followed by direct sequencing of all exons. The identified mutations were investigated using bioinformatics tools to predict their effects on the protein product and also to compare the mutated sequence with close species. Results One previously known missense mutation (c.1978 C > T) and three novel mutations (c.1797dupT, c.879delC, c.1218 C > G) were identified in the ABCD1 gene, each in one family. Predicting the effects of the mutations on protein structure and function indicated the probable damaging effect for them with significant alterations in the protein structure. We found three novel mutations in the ABCD1 gene with damaging effects on its protein product and responsible for X-ALD.

Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP

2001 ◽  
Vol 109 (6) ◽  
pp. 616-622 ◽  
Author(s):  
Carla P. Guimarães ◽  
Manuela Lemos ◽  
Isabel Menezes ◽  
Teresa Coelho ◽  
Clara Sá-Miranda ◽  
...  
Keyword(s):  
Abcd1 Gene ◽  
Low Levels

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy

2015 ◽  
Vol 11 (4) ◽  
pp. 366-373 ◽  
Author(s):  
Shan-Shan Chu ◽  
Jun Ye ◽  
Hui-Wen Zhang ◽  
Lian-Shu Han ◽  
Wen-Juan Qiu ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Chinese Patients ◽  
Novel Mutations ◽  
Abcd1 Gene

Role of family D ATP-binding cassette transporters (ABCD) in cancer

2015 ◽  
Vol 43 (5) ◽  
pp. 937-942 ◽  
Author(s):  
Viktor Hlaváč ◽  
Pavel Souček
Keyword(s):  
Atp Binding ◽  
Long Chain Fatty Acids ◽  
Peroxisomal Disorders ◽  
Differentiated Cells ◽  
The Family ◽  
Abcd1 Gene ◽  
Available Information ◽  
Coenzyme A Esters ◽  
Atp Binding Cassette

ATP-binding cassette (ABC) transporters, belonging to the family D, are expressed in peroxisomes, endoplasmic reticulum or lysosomes. ABCD transporters play a role in transport of lipids, bile acids and vitamin B12 and associate with peroxisomal disorders. ABCD1 performs transport of coenzyme A esters of very-long-chain fatty acids (VLCFA) in peroxisomes and a number of mutations in ABCD1 gene were linked to an X-linked adrenoleucodystrophy (X-ALD). The role of ABCD transporters in tumour growth has not been studied in detail, but there is some evidence that ABCDs levels differ between undifferentiated stem or tumour cells and differentiated cells suggesting a possible link to tumorigenesis. In this mini-review, we discuss the available information about the role of ABCD transporters in cancer.

scholarly journals X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

PLoS ONE ◽  
2012 ◽  
Vol 7 (12) ◽  
pp. e52635 ◽  
Author(s):  
Cyntia Anabel Amorosi ◽  
Helena Myskóva ◽  
Mariela Roxana Monti ◽  
Carlos Enrique Argaraña ◽  
Masashi Morita ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Abcd1 Gene
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