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SMCR8 gene

Known as: SMCR8, FLJ34716, Smith-Magenis syndrome chromosome region, candidate 8 
 
National Institutes of Health

Papers overview

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2019
2019
The intronic hexanucleotide expansion in the C9orf72 gene is one of the leading causes of frontotemporal lobar degeneration (FTLD… Expand
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2019
2019
How lysosome and MTORC1 signaling interact remains elusive in terminally differentiated cells. A G4C2 repeat expansion in C9orf72… Expand
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2019
2019
G4C2 repeat expansions in an intron of C9ORF72 cause the most common familial amyotrophic lateral sclerosis and frontotemporal… Expand
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2018
2018
While a mutation in C9ORF72 is the most common genetic contributor to amyotrophic lateral sclerosis (ALS), much remains to be… Expand
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2018
2018
The SMCR8-WDR41-C9ORF72 complex is a regulator of autophagy and lysosomal function. Autoimmunity and inflammatory disease have… Expand
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2017
2017
Autophagy is an intracellular recycling and degradation pathway that depends on membrane trafficking. Rab GTPases are central for… Expand
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Review
2017
Review
2017
Through autophagy intracellular material is engulfed by double membrane vesicles and delivered to lysosomes for degradation. This… Expand
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Highly Cited
2016
Highly Cited
2016
Hexanucleotide repeat expansion in the C9orf72 gene is a leading cause of frontotemporal lobar degeneration (FTLD) with… Expand
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Highly Cited
2016
Highly Cited
2016
The intronic GGGGCC hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9ORF72) is a prevalent genetic… Expand
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2016
2016
An intronic expansion of GGGGCC repeats within the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis… Expand
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