Results 71 to 80 of about 5,681 (206)

Hypomyelinating leukodystrophies — unravelling myelin biology

, 2021
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders characterized by a primary lack of myelin deposition. Most patients with severe hypomyelination present in infancy or early childhood and develop severe neurological ...
Wolf, Nicole I., Marjo S. van der Knaap, ffrench-Constant, Charles, van der Knaap, Marjo S., Charles ffrench-Constant, Nicole I. Wolf   +5 more
core   +1 more source

Case definition and classification of leukodystrophies and leukoencephalopathies

, 2015
Objective: An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers efforts to study the epidemiology and the relevance of genetic white matter disorders to public health.
Prust M, Wolf NI, van der Knaap MS, Labauge P, Aubourg P, Boespflug-Tanguy O, Vanderver A, Van Hove JLK, Rodriguez D, Schmidt J, Helman G, Tonduti D, Mochel F, Garbern J, Schiffmann R, Eichler F, Patterson MC, Hussey HM   +17 more
core   +2 more sources

MRI Features Predictive of Aicardi-Goutieres Syndrome

Pediatric Neurology Briefs, 2015
Investigators from Children’s National Health System Washington, DC, USA: Harvard University, Boston, USA; Leeds Teaching Hospitals, UK; and other international centers review a series of patients with MRIs selected from IRB-approved leukodystrophy ...
J Gordon Millichap
doaj   +1 more source

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

Differential Diagnosis of Pediatric Multiple Sclerosis

Children, 2019
The differential diagnosis of pediatric multiple sclerosis (MS) can be broad and pose diagnostic challenges, particularly at initial presentation. Among demyelinating entities, neuromyelitis optica spectrum disorders (NMOSD), myelin oligodendrocyte ...
Maria Milagros Galardi, Cristina Gaudioso, Saumel Ahmadi, Emily Evans, Laura Gilbert, Soe Mar   +5 more
doaj   +1 more source

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

Schwann Cell‐Specific ATG7‐Dependent Autophagy Protects Myelin in a Mouse Model of Krabbe Disease

Glia, Volume 74, Issue 12, December 2026.
Krabbe disease (KD) is caused by mutations in GALC and deregulated lysosomal function in Schwann cells (SCs). Using a SC‐specific Galc‐cKO mouse, we identified altered autophagy in SCs during KD progression. Further ablation of Atg7 in SCs of KD worsened disease severity.
Narayan Dhimal, Aditya Sidharth, Jiajun Zhang, Trina Rudra, Edward Hurley, Pablo M. Paez, Fraser J. Sim, Daesung Shin, M. Laura Feltri   +8 more
wiley   +1 more source

Microglia replacement by ER-Hoxb8 conditionally immortalized macrophages provides insight into Aicardi–Goutières syndrome neuropathology

eLife
Microglia, the brain’s resident macrophages, can be reconstituted by surrogate cells – a process termed ‘microglia replacement’. To expand the microglia replacement toolkit, we here introduce estrogen-regulated (ER) homeobox B8 (Hoxb8) conditionally ...
Kelsey M Nemec, Genevieve Uy, V Sai Chaluvadi, Freddy S Purnell, Bilal Elfayoumi, Leila Byerly, Micaela L O'Reilly, Carleigh A O'Brien, William H Aisenberg, Sonia I Lombroso, Xinfeng Guo, Niklas Blank, Chet Huan Oon, Fazeela Yaqoob, Brian Temsamrit, Priyanka Rawat, Christoph A Thaiss, Will Bailis, Adam P Williamson, Qingde Wang, Mariko L Bennett, F Chris Bennett   +21 more
doaj   +1 more source

Pathogenic Variants in HEPACAM Alter Protein Localization and Interactome in Astrocytes of the Developing Mouse Cortex

Glia, Volume 74, Issue 11, November 2026.
Pathogenic variants alter hepaCAM protein distribution. Astrocyte‐specific hepaCAM TurboID reveals KCNQ2 as a new interaction partner. Pathogenic variants alter hepaCAM association with key transmembrane proteins. ABSTRACT Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early‐onset macrocephaly,
Robert W. Lewis, Breana C. Dogan, Amy L. Stanek, Elliot B. Evans, Madelyn G. Coble, Hayli E. Spence‐Osorio, Karen L. G. Farizatto, Angie L. Mordant, C. Allie Mills, Laura E. Herring, Katherine T. Baldwin   +10 more
wiley   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source