Results 81 to 90 of about 2,524,227 (174)

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling

Balkan Journal of Medical Genetics
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. In this study, we report the case of a Moroccan patient diagnosed with X-ALD due to a mutation
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N   +7 more
doaj   +1 more source

Downregulation of ABCD1 in Human Renal Cell Carcinoma

, 2009
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.
Yeong-Shiau Pu, Yi-Zih Kuo, Wang-Yi Kang, Yu-Chieh Tsai, Chao-Yuan Huang, Shu-Pin Huang, Tzyh-Chyuan Hour, Guang-Yaw Liu, Wen-Jeng Wu   +8 more
core   +1 more source

Energetic stress in combination with impaired fatty acid oxidation induces sequestration of CoA and adaptation of CoA metabolism

The FEBS Journal, Volume 293, Issue 12, Page 3565-3587, June 2026.
Computational modelling and in vitro liver cell experiments indicate that medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency causes an accumulation of (especially medium‐chain) acyl‐CoAs at the cost of free CoA (CoASH). A substantial decrease in CoASH impairs flux through many pathways essential for energy homeostasis.
Ligia Akemi Kiyuna, Christoff Odendaal, Madhulika Singh, Albert Gerding, Miriam Langelaar‐Makkinje, Marianne van der Zwaag, Asmara Drachman, Vladimíra Cetkovská, Gaby Liem Foeng Kioen, Anne‐Claire M. F. Martines, Nicolette C. A. Huijkman, Hein Schepers, Bart van de Sluis, Dirk‐Jan Reijngoud, Ody C. M. Sibon, Amy C. Harms, Thomas Hankemeier, Barbara M. Bakker   +17 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy

, 2017
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is the consequence of mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long ...
Cecchini, E, Margoni, M., Bellizzi, M, M. Margoni, Soli, F, Soli, F., E. Cecchini, Cecchini, E., F. Soli, SANGALLI, Antonella, Margoni, M, M. Buganza, Buganza, M., Buganza, M, Bellizzi, M., M. Bellizzi, Sangalli, A, A. Sangalli   +17 more
core   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, Volume 109, Issue 5, Page 837-846, May 2026.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

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

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging

Radiology Case Reports, 2019
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of the ABCD1 gene, resulting in the impaired degradation of very long-chain fatty acids and their ...
Clemente Dato, MD, Guglielmo Capaldo, MD, Chiara Terracciano, MD, PhD, Filomena Napolitano, MSc, PhD, Alessandra D'Amico, MD, Sabina Pappatà, MD, Filippo Maria Santorelli, MD, PhD, Giuseppe Di Iorio, MD, Simone Sampaolo, MD, PhD, Mariarosa AB Melone, MD   +9 more
doaj   +1 more source

A review of genetic modification for ex vivo cellular therapies

Transfusion, Volume 66, Issue S2, Page S45-S57, September 2026.
Anh Dinh, Nan Zhang, David Stroncek
wiley   +1 more source

X-linked Adrenoleukodystrophy in a 20-Year-Old Male With an ABCD1 Gene Mutation: First Case From Pakistan. [PDF]

Cureus, 2022
Ghori M, Molani RA, Ibrahim PMN, Hanif MI, Jamal Raza J.   +4 more
europepmc   +1 more source