Article

Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders

2024-06-13

Abstract excerpt

<h4>ABSTRACT</h4> Autophagy is a fundamental and evolutionary conserved biological pathway with vital roles in intracellular quality control and homeostasis. The process of autophagy involves the engulfment of intracellular targets by autophagosomes and their delivery to the lysosome for digestion and recycling. We have previously reported recessive variants in EPG5 , encoding for the ectopic P-granules 5 autoph...

Topics

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

Identifiers and source

Literature Corpus work: 9d38fb13-e6a5-5e95-b772-01f7f7b41240
DOI: 10.1101/2024.06.12.24308722

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disordersDOI 10.1101/2024.06.12.24308722Read

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.Semantic proximity Read

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Semantic proximity Read

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.Semantic proximity Read

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolismSemantic proximity Read

Vici syndrome: a review.Semantic proximity Read

Progressive neuroinflammation and deficits in motor function in a mouse model with an <i>Epg5</i> pathogenic variant of Vici syndromeSemantic proximity Read

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.Semantic proximity Read

Role of<i><i>Epg5</i></i>in selective neurodegeneration and Vici syndromeSemantic proximity Read

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathiesSemantic proximity Read

Pathogenic variants in<i>BORCS5</i>Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionSemantic proximity Read

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.Semantic proximity Read

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.Semantic proximity Read