Results 61 to 70 of about 7,333,851 (157)

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

Lentiviral-mediated stable silencing of Abcd1 in human U87 astrocytoma and rat B12 oligodendrocytes.

, 2013
Pool of three GFP-tagged lentiviral-shRNAs for Abcd1 was used for transduction of human U87 astrocytes and rat B12 oligodendrocytes. Human U87 astrocytoma cells (U87-astrocytes) and rat B12 oligodendrocytes (B12 oligodendrocytes) were tranduced with ...
Inderjit Singh (33771), Aurora Pujol (22834), Mauhamad Baarine (584660), Jaspreet Singh (533281), Mushfiquddin Khan (584659)   +4 more
core   +1 more source

Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy

, 2018
Mutations in the ABCD1 gene that encodes peroxisomal ABCD1 protein cause X-linked adrenoleukodystrophy (X-ALD), a rare neurodegenerative disorder. More than 70% of the patient fibroblasts with this missense mutation display either a lack or reduction of ...
Kosuke Kawaguchi, Stephan Kemp, Yamazaki, Kozue, Matsumoto, Shun, Kemp, Stephan, Kojima, Hirotatsu, Shimozawa, Nobuyuki, Ronald J. Wanders, Sato, Airi, Kozue Yamazaki, Shun Matsumoto, Hirotatsu Kojima, Morita, Masashi, Imanaka, Tsuneo, Okabe, Takayoshi, Masashi Morita, Nobuyuki Shimozawa, Inoue, Kengo, Kawaguchi, Kosuke, Airi Sato, Kengo Inoue, Kostsin, Dzmitry G, Dzmitry G. Kostsin, Takayoshi Okabe, Tsuneo Imanaka, Wanders, Ronald J   +25 more
core   +1 more source

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

, 2022
The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids.
Stephan Kemp, Engelen, Marc, Marc Engelen, Mallack, Eric J., Kemp, Stephan, Eric J. Mallack, Gao, Kerry, Kerry Gao   +7 more
core   +1 more source

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X‐Linked Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a rare monogenic disorder characterized by marked variability in clinical presentation, age at onset, and disease progression. A deeper understanding of its natural history and the relationship between biochemical markers and clinical phenotypes is essential for improving disease monitoring, patient ...
Julia Lier, Markus Ponleitner, Denny Popp, Lisa Schäfer, Franziska Küstermann, Christof Meigen, Frank Kratzer, Joachim Janda, Jürgen Okun, Rami Abou Jamra, Wolfgang Köhler, Caroline Bergner   +11 more
wiley   +1 more source

Generation and characterization of iPSC‐derived microglia for in vitro modeling of stimuli‐specific neuroimmune responses

Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.
Abstract INTRODUCTION Microglia are macrophage‐like brain resident immune cells known to express numerous Alzheimer's disease risk genes. Here we generated a human induced pluripotent stem cell (iPSC) derived microglia cell culture model for use in neuroimmune modeling and therapeutic testing.
Angela K. Haskell, Joshua A. Kulas, William E. Carter, June Javens‐Wolfe, Raven Dance Hinkel, Mustapha Moussaif, Jacob S. Smiley, Olivia Lazaro, Sylvia Robertson, Alan D. Palkowitz, Bruce T. Lamb, Timothy I. Richardson, Jeffrey L. Dage, Shaoyou Chu, Travis Johnson, Louis F. Stancato, Abdul Qadir Syed   +16 more
wiley   +1 more source

Loss of AMP-Activated Protein Kinase Induces Mitochondrial Dysfunction and Proinflammatory Response in Unstimulated Abcd1-Knockout Mice Mixed Glial Cells

, 2015
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations and/or deletions in the ABCD1 gene. Similar mutations/deletions can give rise to variable phenotypes ranging from mild adrenomyeloneuropathy (AMN) to inflammatory fatal cerebral ...
Jaspreet Singh, Hamid Suhail, Shailendra Giri   +2 more
core   +2 more sources

Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1

, 2023
Cerebral adrenoleukodystrophy (CALD) is a fatal genetic disease characterized by rapid, devastating neurological decline, with a narrow curative treatment window in the early stage.
Ying Hu, Xulai Shi, Hu, Ying, Zheng, Feixia, Zhongdong Lin, Lin, Zhenlang, Shi, Xulai, Qianlei Zhao, Lin, Zhongdong, Feixia Zheng, Zhenlang Lin, Zhao, Qianlei   +11 more
core   +1 more source

The Potential of Phytochemicals to Overcome Multidrug Resistance in Metastatic Melanoma

Chemistry &Biodiversity, Volume 23, Issue 1, January 2026.
ABSTRACT Metastatic melanoma is the most lethal form of skin cancer, accounting for most skin cancer‐related deaths. Immunotherapies and targeted therapies have improved overall and progression‐free survival rates in metastatic melanoma patients. The effectiveness of these therapies decreases due to multidrug resistance (MDR).
Jacqueline Maphutha, Danielle Twilley, Mona Dawood, Thomas Efferth, Namrita Lall   +4 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