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Lipids are critical for the structure, signaling, and metabolism of the central nervous system (CNS), yet their roles during human brain development remain underexplored due to limited tissue availability. X-linked adrenoleukodystrophy (ALD), a peroxisomal disorder caused by ABCD1 mutat...

2025-11-17 | MTBLS12973 | MetaboLights

Tic disorder (TD) is a developmental neuropsychiatric disorder that primarily occurs during childhood and impacts the quality of life and psychosocial function of patients. The pathogenesis of TD involves the dysregulation of the cortico-striato-thalamo-cortical (CSTC) circuit and metabolic abnor...

2025-03-18 | MTBLS11764 | MetaboLights

INTRODUCTION: Approximately 1% of the world's population is impacted by epilepsy, a chronic neurological disorder characterized by seizures. One-third of epileptic patients are resistant to AEDs, or have medically refractory epilepsy (MRE). One non-invasive treatment that exists...

2022-01-06 | MTBLS1432 | MetaboLights
Familial Hemiplegic Migraine type 1 (FHM1) is a rare monogenic subtype of migraine with aura caused by mutations in CACNA1A that encodes the a1A subunit of voltage-gated CaV2.1 calcium channels. Transgenic knock-in mice that carry the human FHM1 R192Q missense mutation (“FHM1 R192Q mice”) exhibi...
ORGANISM(S): Mus musculus 
Induced pluripotent stem cell (iPSC)-derived cortical neurons present a powerful new model of neurological disease. Previous work has established that differentiation protocols produce cortical neurons but little has been done to characterise these at cellular resolution. In particular, it is unclea...
ORGANISM(S): Homo sapiens 
Polycystic kidney disease (PKD) encompasses a spectrum of inherited disorders that lead to end-stage renal disease (ESRD). There is no cure for PKD and current treatment options are limited to renal replacement therapy and transplantation. A better understanding of the pathobiology of PKD is needed ...
2023-01-26 | MTBLS748 | MetaboLights
Surprisingly little is known about the critical metabolic changes that neural cells have to undergo during development and how even mild, temporary shifts in this program can influence brain circuitries and behavior. Inspired by the discovery that mutations in SLC7A5, a transporter of metabolically-...
2023-03-28 | MTBLS6578 | MetaboLights
Allan-Herndon-Dudley syndrome (AHDS) is a rare disorder caused by faulty thyroid hormone transport to the brain, leading to severe movement problems and intellectual disability. Our study in a murine model of the AHDS used snRNAseq to gain deep insights into individual cortical cells, aiming to unra...
ORGANISM(S): Mus musculus 
Large-scale transcriptional profiling has enormous potential for discovery of osteoporosis susceptibility genes and for identification of the molecular mechanisms by which these genes and associated pathways regulate bone maintenance and turnover. A potential challenge in the use of this method for ...
ORGANISM(S): Papio hamadryas 
Cortical injury frequently causes motor dysfunction, significantly impairing activities of daily living, and currently, there are no effective therapeutic options available. Previous studies demonstrated that intravenous infusion of mesenchymal stromal cell-derived extracellular vesicles (MSC-EVs) e...
ORGANISM(S): Macaca mulatta (Rhesus macaque) 
2026-06-15 | PXD059286 | Pride
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