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2 results for “SMN”

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  1. Inhibition of RNA splicing triggers CHMP7 nuclear entry, impacting TDP-43 function and leading to the onset of ALS cellular phenotypes.

    Neuron · 2024 · 112(24): 4033-4047.e8

    Amyotrophic lateral sclerosis (ALS) is linked to the reduction of certain nucleoporins in neurons. Increased nuclear localization of charged multivesicular body protein 7 (CHMP7), a protein involved in nuclear pore surveillance, has been identified as a key factor damaging nuclear …

    PMID 39486415 DOI ↗

  2. ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.

    Nature communications · 2015 · 6: 6171

    The RNA-binding protein FUS/TLS, mutation in which is causative of the fatal motor neuron disease amyotrophic lateral sclerosis (ALS), is demonstrated to directly bind to the U1-snRNP and SMN complexes. ALS-causative mutations in FUS/TLS are shown to abnormally enhance their …

    PMID 25625564 DOI ↗

Datasets 12

GSE254209 GSE · GEO

Inhibition of RNA splicing triggers CHMP7 nuclear entry impacting TDP-43 function and leading to onset of ALS (eCLIP).

Homo sapiens · GPL24676

GSE254208 GSE · GEO

Inhibition of RNA splicing triggers CHMP7 nuclear entry impacting TDP-43 function and leading to onset of ALS (RNA-Seq).

Homo sapiens · Illumina

GSE145805 GSE · GEO

RNA secondary structome of different cell lines

Homo sapiens, Mus musculus · GPL20795, GPL21273

ENCSR388VKV ENCSR · ENCODE

eCLIP control experiment on HepG2 against SMNDC1

Homo sapiens

ENCSR090UMI ENCSR · ENCODE

shRNA knockdown against SMN1 in HepG2 cells followed by RNA-seq. (SMN1-BGHLV20)

Homo sapiens

ENCSR373ODC ENCSR · ENCODE

eCLIP experiment on HepG2 against SMNDC1

Homo sapiens

ENCSR408SDL ENCSR · ENCODE

shRNA knockdown against SMNDC1 in K562 cells followed by RNA-seq. (SMNDC1 BGKLV13)

Homo sapiens

ENCSR995ZGJ ENCSR · ENCODE

shRNA knockdown against SMNDC1 in HepG2 cells followed by RNA-seq. (SMNDC1 BGHLV14)

Homo sapiens

ENCSR631CJA ENCSR · ENCODE

eCLIP control experiment on K562 against SMNDC1

Homo sapiens

ENCSR658IQB ENCSR · ENCODE

eCLIP experiment on K562 against SMNDC1

Homo sapiens

ENCSR129ROE ENCSR · ENCODE

RNA-seq on K562 cells treated with an shRNA knockdown against SMN1. (SMN1_BGKLV24_B)

Homo sapiens

GSE64078 GSE · GEO

ALS-causative mutations in FUS/TLS confer gain- and loss-of-function by altered association with SMN and U1-snRNP

Homo sapiens · GPL11154

Analyses 1

GSE64078 Processing Pipeline

GSE64078 · 1 step · OTHER · code_examples

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP. (2015)