Article

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder

2021-10-05

Abstract excerpt

<h4>ABSTRACT</h4> Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present genetic, cellular and biochemical evidence that two distinct RBSN missense variants are responsible for a novel Mendelian disorder consisting of progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. Using exome sequencing, we identified recessive...

Topics

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

Identifiers and source

Literature Corpus work: 94090ab7-d1b4-527e-ba2a-239ada06bad2
DOI: 10.1101/2021.10.03.21264281

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian DisorderDOI 10.1101/2021.10.03.21264281Read

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.Semantic proximity Read

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic traffickingSemantic proximity Read

Cargos and genes: insights into vesicular transport from inherited human disease.Semantic proximity Read

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disordersSemantic proximity Read

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variantsSemantic proximity Read

Hypomyelination and developmental delay associated with <i>VPS11</i> mutation in Ashkenazi-Jewish patientsSemantic proximity Read

The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.Semantic proximity Read

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.Semantic proximity Read

Rab GTPases implicated in inherited and acquired disorders.Semantic proximity Read

A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?Semantic proximity Read

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishSemantic proximity Read

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.Semantic proximity Read