Dataset Information


Transcriptomic of MKD (MUC1 kidney disease) patient compares to normal derived kidney epithelial cells

ABSTRACT: Transcriptomic of MKD (MUC1 kidney disease) patient compares to normal derived kidney epithelial cells



Dataset's files

Action DRS
SRR8921510_1.fastq.gz Fastqsanger.gz
SRR8921510_2.fastq.gz Fastqsanger.gz
SRR8921511_1.fastq.gz Fastqsanger.gz
SRR8921511_2.fastq.gz Fastqsanger.gz
SRR8921512_1.fastq.gz Fastqsanger.gz
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Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.

Dvela-Levitt Moran M   Kost-Alimova Maria M   Emani Maheswarareddy M   Kohnert Eva E   Thompson Rebecca R   Sidhom Eriene-Heidi EH   Rivadeneira Ana A   Sahakian Nareh N   Roignot Julie J   Papagregoriou Gregory G   Montesinos Monica S MS   Clark Abbe R AR   McKinney David D   Gutierrez Juan J   Roth Mark M   Ronco Lucienne L   Elonga Esther E   Carter Todd A TA   Gnirke Andreas A   Melanson Michelle M   Hartland Kate K   Wieder Nicolas N   Hsu Jane C-H JC   Deltas Constantinos C   Hughey Rebecca R   Bleyer Anthony J AJ   Kmoch Stanislav S   Živná Martina M   Barešova Veronika V   Kota Savithri S   Schlondorff Johannes J   Heiman Myriam M   Alper Seth L SL   Wagner Florence F   Weins Astrid A   Golub Todd R TR   Lander Eric S ES   Greka Anna A  

Cell 20190701 3

Intracellular accumulation of misfolded proteins causes toxic proteinopathies, diseases without targeted therapies. Mucin 1 kidney disease (MKD) results from a frameshift mutation in the MUC1 gene (MUC1-fs). Here, we show that MKD is a toxic proteinopathy. Intracellular MUC1-fs accumulation activated the ATF6 unfolded protein response (UPR) branch. We identified BRD4780, a small molecule that clears MUC1-fs from patient cells, from kidneys of knockin mice and from patient kidney organoids. MUC1-  ...[more]

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