Results 81 to 90 of about 3,353 (190)

SAHA treatment lowers the mRNA expression of ELOVL1 and ELOVL3 in Abcd1-deficient U87 astrocytes and B12 oligodendrocytes.

, 2013
Abcd1-deficient U87 astrocytes and B12 oligodendrocytes were treated dose-dependently with SAHA for 3 days and mRNA expression of ELOVL1 and ELOVL3 were quantified in control, NT, and untreated/treated Abcd1-deficient U87 astrocytes (A and B) and B12 ...
Inderjit Singh (33771), Aurora Pujol (22834), Mauhamad Baarine (584660), Jaspreet Singh (533281), Mushfiquddin Khan (584659)   +4 more
core   +1 more source

Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders [PDF]

, 2002
X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. ABCD1 resides on Xq28 and encodes an integral peroxisomal membrane protein (ALD protein [ALDP]) that is of unknown function and that belongs to the ATP-binding cassette–transporter ...
Moser, Hugo W., Cutting, Garry R., Gibson, William, LePage, Guy, Smith, Kirby D., Tyson, Heidi, Raymond, Gerald V., Mitchell, Grant, Johnson, Kisha, Cox, Gerald F., Zeiss, Carolyn, Moser, Ann B., Steinberg, Steven J., Corzo, Deyanira, Casey, Robin, Watkins, Paul A.   +15 more
core   +1 more source

Transforming Brain Health With Neurotechnological Convergence (Part I): Precision Diagnostics and Targeted Interventions

Brain Health, Volume 1, Issue 2, 24 June 2026.
ABSTRACT Brain disorders are a critical global health challenge, affecting approximately half the world's population (∼4 billion individuals) in 2021 and accounting for 5139 disability‐adjusted life years per 100,000 population. The ramifications extend well beyond clinical manifestations to substantial economic losses, strained healthcare systems, and
Yangyang Duan, Yifan Fu, Zehan Wu, Wenyue Zheng, Ge Lv, Liang Chen, Jiawen Wu, Zao Han, Qing Dai, Quansheng Gu, Hiu Yi Wong, Amy K. Y. Fu, Ying Mao, Nancy Y. Ip   +13 more
wiley   +1 more source

ABCD1 as a Novel Diagnostic Marker for Solid Pseudopapillary Neoplasm of the Pancreas

American Journal of Surgical Pathology
The diagnosis of solid pseudopapillary neoplasm of the pancreas (SPN) can be challenging due to potential confusion with other pancreatic neoplasms, particularly pancreatic neuroendocrine tumors (NETs), using current pathological diagnostic markers. We conducted a comprehensive analysis of bulk RNA sequencing data from SPNs, NETs, and normal pancreas ...
Liu, Ying-ao, Liu, Yuanhao, Tu, Jiajuan, Shi, Yihong, Pang, Junyi, Huang, Qi, Wang, Xun, Lin, Zhixiang, Zhao, Yupei, Wang, Wenze, Peng, Junya, Wu, Wenming   +11 more
openaire   +2 more sources

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children

Annals of the Child Neurology Society, Volume 4, Issue 2, Page 117-124, June 2026.
ABSTRACT Purpose X‐linked adrenoleukodystrophy (ALD) encompasses a wide range of neurological manifestations, classically described as distinct phenotypes including childhood cerebral adrenoleukodystrophy and adult‐onset adrenomyeloneuropathy (AMN).
Elle Winter, Amanda Nagy, Yedda Li, Otto Rapalino, Catherine L. Becker, Joseph Locascio, Camilo Jaimes, Florian Eichler   +7 more
wiley   +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

VLCFA levels in wild-type, Abcd1 and Abcd2 single-deficient and Abcd1/Abcd2 double-deficient mouse peritoneal macrophages.

, 2014
The concentrations of the VLCFA species C26∶0, C24∶0 and C22∶0 and the LCFA C16∶0 were determined by GC-MS. The relative amounts of fatty acids, expressed as ratios: (A) C26∶0/C22∶0; (B) C26∶0/C16∶0; (C) C24∶0/C22∶0 and (D), C22∶0/C16∶0 were analyzed in ...
Christoph Wiesinger (634568), Till Voigtländer (634569), Johannes Berger (6439), Zahid Muneer (606786), Hauke B. Werner (176255), Sonja Forss-Petter (188101)   +5 more
core   +1 more source

Modulation of apoptotic response in Abcd1-deficient U87 astrocytes and B12 oligodendrocytes.

, 2013
Cells were treated with cytokines/SAHA in serum-free media and harvested after 24 h. Cell lysate was prepared from control, NT, and untreated/treated Abcd1-deficient U87 astrocytes and B12 oligodendrocytes as described in methods section.
Inderjit Singh (33771), Aurora Pujol (22834), Mauhamad Baarine (584660), Jaspreet Singh (533281), Mushfiquddin Khan (584659)   +4 more
core   +1 more source