Results 131 to 140 of about 19,093 (232)

Innovative tree-based method for sampling molecular conformations: exploring the ATP-binding cassette subfamily D member 1 (ABCD1) transporter as a case study

Frontiers in Molecular Biosciences
We introduce a novel tree-based method for visualizing molecular conformation sampling. Our method offers enhanced precision in highlighting conformational differences and facilitates the observation of local minimas within proteins fold space.
Thomas Haschka, Foudil Lamari, Fanny Mochel, Violetta Zujovic   +3 more
doaj   +1 more source

Structure and location of the murine adrenoleukodystrophy gene [PDF]

, 1996
X-linked adrenoleukodystrophy (ALD) is a degenerative neurological disease characterized by the accumulation of very long chain fatty acids in various tissues and demyelination of the central nervous system.
Fifield, Wendy J., Morris, Christine M., Dodd, Andrew, Rowland, Shelley A., Miller, Allison L., Love, Donald R., Kennedy, Martin A., Neville, Louise A.   +7 more
core   +1 more source

Bone marrow transplantation in patients with storage diseases: a developing country experience

Arquivos de Neuro-Psiquiatria, 2006
Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center.
Lange Marcos C., Teive Hélio A.G., Troiano André R., Bitencourt Marco, Funke Vaneuza A.M., Setúbal Daniela C., Zanis Neto José, Medeiros Carlos R., Werneck Lineu C., Pasquini Ricardo, Bonfim Carmen M.S.   +10 more
doaj  

Transcriptomic analysis of identical twins with different onset ages of adrenoleukodystrophy

Frontiers in Neuroscience
IntroductionAdrenoleukodystrophy (ALD) is a rare X-linked neurogenetic disease caused by mutations in the ATP-binding cassette subfamily D member 1 (ABCD1) gene. Currently, the molecular mechanisms underlying the onset and severity of ALD remain unclear.
Chuhua Fu, Qiuyu Su, Qiuyu Su, Yinglian Chen, Yinglian Chen, Yonghui Zhang, Yan Zhang, Ying Cao, Xinggang Wang, Zhiming Zhen, Chen Liu, Chen Liu, Zhao Yang, Changlin Yin, Liang Tan   +14 more
doaj   +1 more source

Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy

Neurotherapeutics, 2022
M. Terluk, Julianne Tieu, Siddhee A. Sahasrabudhe, A. Moser, P. Watkins, G. Raymond, Reena V. Kartha   +6 more
semanticscholar   +1 more source

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Frontiers in Cell and Developmental Biology, 2021
Rinse W. Barendsen, Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp, Stephan Kemp   +28 more
doaj   +1 more source

X-linked adrenoleukodystrophy; Recent Advances in Classification, Diagnosis and Management [PDF]

, 2017
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP).
고아라, 정을식, 강훈철
core  

Adrenomyeoloneuropathy, X-linked adrenoleukodystrophy phenotype. A Case Report [PDF]

, 2018
Introduction: Adrenomyeoloneuropathy is a peroxisomal disease with a sex-linked pattern of inheritance. It is a phenotypic variety of X-linked adrenoleukodystrophy; this last one is also a cause of adrenal insufficiency.
Alberto Juan Dorta-Contreras, Daisy Wainshtok-Tomás, Cristóbal González-Losada   +2 more
core   +1 more source

Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy. [PDF]

JCEM Case Rep
Jin A, Bhatnagar A, Bryant A, Soe K.
europepmc   +1 more source

Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without Apparent Brain MRI Abnormalities at Disease Onset. [PDF]

Cerebellum
Nakagawa Y, Sugiyama A, Shibuya K, Yokota H, Matsukawa T, Ishiwata K, Mori M.   +6 more
europepmc   +1 more source