Expanded Polyglycine Protein Aggregates Alter the RNA Splicing Profile into a Premature State Partially via Sequestering SF3B4.

Sequestration of CAPNS1 into Polyglycine Aggregates in a Cellular Model of NOTCH2NLC Repeat Expansion.

Neuronal Intranuclear Inclusion Disease (NIID) is caused by GGC repeat expansions in the 5' untranslated region of the notch 2 N-terminal like C (NOTCH2NLC) gene. An upstream open reading frame within the mutant transcript produces the NOTCH2NLC upstream open reading frame-derived polyglycine protein (uN2CpolyG) contai...

YTHDC1 functions as a molecular chaperone to suppress ALS-linked hnRNPA1 mutants from aggregation

Proteostasis failure drives multiple neurodegenerative disorders (NDs), and ATP-independent chaperone pathways that support neuronal proteostasis remain poorly defined. Here, we identify the N6-methyladenosine (m6A)-binding protein YTHDC1 as an ATP-independent molecular chaperone, whose activity is mediated by a highly...

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

Disrupted PQBP1-HNRNPU-LINE-1 axis underlies aberrant neurodevelopment in renpenning syndrome.

TTC33 forms a complex with WDR61 and PHF5A to recruit factors relevant to genomic integrity

Using a combination of biochemical assays, structural modeling and molecular dynamics, it is shown that TTC33 directly recruits WDR61 and PHF5A to assemble into a trimeric core complex (TANC), which then forms distinct interactions with either UNG1/2 or SF3B–CCDC97.

The conserved U1 snRNP subunit FgLuc7 regulates sexual development and pre-mRNA processing in fusarium graminearum.

The U1 small nuclear ribonucleoprotein (U1 snRNP) is an essential spliceosome component that mediates pre-mRNA splicing. Although the molecular function of Luc7 proteins is broadly conserved in eukaryotes, whether this core splicing factor acquires developmentally specialized functions in filamentous fungi remains uncl...