Article

Neurodegenerative and neurodevelopmental roles for bulk lipid transporters <i>VPS13A</i> and <i>BLTP2</i> in movement disorders

2024-12-30

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Bridge-like lipid transfer proteins (BLTPs) mediate bulk lipid transport at membrane contact sites. Mutations in BLTPs are linked to both early-onset neurodevelopmental and later-onset neurodegenerative diseases, including movement disorders. The tissue specificity and temporal requirements of BLTPs in disease pathogenesis remain poorly understood. <h4>Objectives</h4> To de...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 44296ed8-9abb-5a50-92c1-003bd9976675
DOI: 10.1101/2024.12.30.630795

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Neurodegenerative and neurodevelopmental roles for bulk lipid transporters <i>VPS13A</i> and <i>BLTP2</i> in movement disordersDOI 10.1101/2024.12.30.630795Read

Chronological requirements of TDP-43 function in synaptic organization and locomotive controlSemantic proximity Read

Neuro-glial lipid imbalance in a <i>Drosophila</i> model of Amyotrophic Lateral Sclerosis 8Semantic proximity Read

ALS-Associated KIF5A Mutation Causes Locomotor Deficits Associated with Cytoplasmic Inclusions, Alterations of Neuromuscular Junctions, and Motor Neuron Loss.Semantic proximity Read

Axonal transport defects are a common phenotype in Drosophila models of ALS.Semantic proximity Read

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes.Semantic proximity Read

<i>Ggnbp2</i> regulates synaptic development and autophagy in motor neuronsSemantic proximity Read

TMEM184b Promotes Axon Degeneration and Neuromuscular Junction Maintenance.Semantic proximity Read

The conserved outer mitochondrial membrane protein Mtch regulates mitophagy during Drosophila intestinal development.Semantic proximity Read

Modeling neuromuscular diseases in zebrafishSemantic proximity Read

AAV-mediated gene transfer of WDR45 corrects neurologic deficits in the mouse model of beta-propeller protein-associated neurodegenerationSemantic proximity Read

Mitigating Motor Neuronal Loss in C. elegans Model of ALS8.Semantic proximity Read

Anti-Parkinsonian Drugs Rescue Locomotor Deficits in JIP3 Knockout Zebrafish: Implications for Treating Patients with <i>MAPK8IP3</i> -related Neurodevelopmental DisordersSemantic proximity Read