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Article
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration
GEMIN5 is essential for core assembly of small nuclear Ribonucleoproteins (snRNPs), the building blocks of spliceosome formation. Loss-of-function mutations in GEMIN5 lead to a neurodevelopmental syndrome among p...
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Article
Open AccessLSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice
Spinobulbar muscular atrophy (SBMA) is caused by CAG expansions in the androgen receptor gene. Androgen binding to polyQ-expanded androgen receptor triggers SBMA through a combination of toxic gain-of-function...
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Article
Open AccessNUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility
A G4C2 hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of ALS and FTLD (C9-ALS/FTLD) with cytoplasmic TDP-43 inclusions observed in regions of neurodegeneration. The accumulat...
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Article
DDX17 is involved in DNA damage repair and modifies FUS toxicity in an RGG-domain dependent manner
Mutations in the RNA binding protein, Fused in Sarcoma (FUS), lead to amyotrophic lateral sclerosis (ALS), the most frequent form of motor neuron disease. Cytoplasmic aggregation and defective DNA repair machi...
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Article
Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway
Nucleocytoplasmic transport (NCT) decline occurs with aging and neurodegeneration. Here, we investigated the NCT pathway in models of amyotrophic lateral sclerosis–fused in sarcoma (ALS–FUS). Expression of ALS...
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Article
Open AccessLoss of function mutations in GEMIN5 cause a neurodevelopmental disorder
GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of sp...
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Article
Open AccessImpairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
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Article
Open AccessRNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3
The most common genetic cause of amyotrophic lateral sclerosis (ALS) is a GGGGCC (G4C2) hexanucleotide repeat expansions in first intron of the C9orf72 gene. The accumulation of repetitive RNA sequences can media...
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Article
Open AccessRNA-recognition motif in Matrin-3 mediates neurodegeneration through interaction with hnRNPM
Amyotrophic lateral sclerosis (ALS) is an adult-onset, fatal neurodegenerative disease characterized by progressive loss of upper and lower motor neurons. While pathogenic mutations in the DNA/RNA-binding prot...
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Article
Open AccessMuscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization
Mutations in fused in sarcoma (FUS) lead to amyotrophic lateral sclerosis (ALS) with varying ages of onset, progression and severity. This suggests that unknown genetic factors contribute to disease pathogenesis....
