Article

Biallelic mutations in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function

2026-07-08

Abstract excerpt

<title>Abstract</title> <p> Purpose Sensing and degradation of double stranded RNA (dsRNA) in the cell is tightly regulated to avoid activation of type I interferon signalling. The mitochondrial dsRNA degradosome complex is formed by PNPT1 and SUPV3L1. While biallelic <italic>PNPT1</italic> mutations are an established cause of early-onset encephalopathy, the clinical and radiological impact of SUPV3L1 dysfun...

Topics

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

Identifiers and source

Literature Corpus work: 16aff74f-e41c-5fbd-b35e-90683ae4e0ab
DOI: 10.21203/rs.3.rs-4356120/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Biallelic mutations in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome functionDOI 10.21203/rs.3.rs-4356120/v2Read

Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processingSemantic proximity Read

Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome.Semantic proximity Read

Loss of the lysosomal protein CLN3 modifies the lipid content of the nuclear envelope leading to DNA damage and activation of YAP1 pro-apoptotic signalingSemantic proximity Read

FBXL4 mutation-caused mitochondrial DNA depletion syndrome is driven by BNIP3/BNIP3L-dependent excessive mitophagy.Semantic proximity Read

Monoallelic <i>POLR3A</i> variants cause a Pol III-related disorder characterized by peripheral neuropathySemantic proximity Read

RNA Polymerase III Subunit Mutations in Genetic DiseasesSemantic proximity Read

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophySemantic proximity Read

Mitochondrial double-stranded RNA triggers antiviral signalling in humans.Semantic proximity Read

Molecular basis of neurodegeneration in a mouse model of <i>Polr3</i> -related diseaseSemantic proximity Read

Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency.Semantic proximity Read

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.Semantic proximity Read

Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.Semantic proximity Read