FAQ

SLC33A1 gene

Known as: SOLUTE CARRIER FAMILY 33 (ACETYL-CoA TRANSPORTER), MEMBER 1, SLC33A1, solute carrier family 33 member 1 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1986-2017
024619862017

Papers overview

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2017
2017
S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model
The S113R mutation (c.339T>G) (MIM #603690.0001) in SLC33A1 (MIM #603690), an ER membrane acetyl-CoA transporter, has been… (More)
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2016
2016
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1
Huppke -Brendel syndrome is a new addition to the evolving spectrum of copper metabolism defects. It is an autosomal recessive… (More)
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Review
2015
Review
2015
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.
Using whole-exome sequencing, we surveyed all the potential pathogenic variants in an SPG42 family and found five SNPs and four… (More)
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2010
2010
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene… (More)
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2007
2007
Gene expressions specifically detected in motor neurons (dynactin 1, early growth response 3, acetyl-CoA transporter, death receptor 5, and cyclin C) differentially correlate to pathologic markers in…
In a differential gene expression profile, we showed previously that dynactin 1 (DCTN1), early growth response 3 (EGR3), acetyl… (More)
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2005
2005
A Test for Airborne Dispersal of Thermophilic Bacteria from Hot Springs
Physical and chemical barriers separate individual terrestrial hot springs and their affiliated communities of thermophilic… (More)
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2004
2004
Lipid biomarkers and carbon-isotopes of modern travertine deposits (Yellowstone National Park, USA): Implications for biogeochemical dynamics in hot-spring systems
Lipid biomarkers and C fractionation patterns were used to understand the dynamics of carbon cycling during microbial metabolisms… (More)
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2004
2004
Comparison of different methods to assess the cytotoxic effects of cytosine deaminase and thymidine kinase gene therapy
Dunning R3327 AT-1 rat prostate tumor cells were transfected with a double-fusion suicide gene (CDglyTK) that coded for the… (More)
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1997
1997
Effect of PD 123319, an AT-2 antagonist, on renal function of the anesthetized dog: comparison with EXP 3174, an AT-1 blocker.
In anaesthetized dogs fed a diet delivering 3.5 mmol NaCl/kg/day, PD 123319 - an angiotensin (AT) II (Ang II) antagonist… (More)
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1996
1996
Involvement of the homeodomain-containing transcription factor PDX-1 in islet amyloid polypeptide gene transcription.
The AT-rich cis-motif A elements of the insulin gene promoter contribute to directing the gene's expression to pancreatic beta… (More)
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