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VPS13A gene
Known as:
CHOREIN
, KIAA0986
, VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A
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National Institutes of Health
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Related topics
Related topics
1 relation
Chorea Acanthocytosis Syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
Neuroacanthocytosis Syndromes
H. Jung
,
A. Danek
,
R. Walker
Orphanet Journal of Rare Diseases
2011
Corpus ID: 8289205
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell…
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Highly Cited
2009
Highly Cited
2009
CHAC1/MGC4504 Is a Novel Proapoptotic Component of the Unfolded Protein Response, Downstream of the ATF4-ATF3-CHOP Cascade1
Imran N. Mungrue
,
J. Pagnon
,
Omid Kohannim
,
Peter S. Gargalovic
,
A. Lusis
Journal of Immunology
2009
Corpus ID: 2924840
To understand pathways mediating the inflammatory responses of human aortic endothelial cells to oxidized phospholipids, we…
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Highly Cited
2004
Highly Cited
2004
Analysis of the human VPS13 gene family.
A. Velayos-Baeza
,
A. Vettori
,
R. Copley
,
C. Dobson-Stone
,
A. Monaco
Genomics
2004
Corpus ID: 2097921
Highly Cited
2002
Highly Cited
2002
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
C. Dobson-Stone
,
A. Danek
,
+42 authors
A. Monaco
European Journal of Human Genetics
2002
Corpus ID: 19924886
Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic…
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Review
2002
Review
2002
Clinical features and molecular bases of neuroacanthocytosis
L. Rampoldi
,
A. Danek
,
A. Monaco
Journal of molecular medicine
2002
Corpus ID: 21615621
The term acanthocytosis is derived from the Greek for "thorn" and is used to describe a peculiar spiky appearance of erythrocytes…
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Highly Cited
2001
Highly Cited
2001
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
S. Ueno
,
Y. Maruki
,
+7 authors
A. Sano
Nature Genetics
2001
Corpus ID: 29708129
Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis. Linkage of chorea-acanthocytosis…
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Highly Cited
1975
Highly Cited
1975
CHOLINE ACETYLTRANSFERASE CONTENT IN DISCRETE REGIONS OF THE RAT BRAIN STEM
R. M. Kobayashi
,
M. Brownstein
,
J. Saavedra
,
M. Palkovits
Journal of Neurochemistry
1975
Corpus ID: 27367759
—Choline acetyltransferase (ChAc) content of 50 separate rat brain stem nuclei and cerebellum removed by microdissection was…
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Highly Cited
1973
Highly Cited
1973
CHOLINE: SELECTIVE ACCUMULATION BY CENTRAL CHOLINERGIC NEURONS
M. Kuhar
,
V. Sethy
,
R. Roth
,
G. Aghajanian
Journal of Neurochemistry
1973
Corpus ID: 36934004
Abstract— Most of the cholinergic input to the hippocampus was destroyed by placement of lesions in the medial septal area. In…
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Highly Cited
1971
Highly Cited
1971
Trans-synaptic regulation of growth and development of adrenergic neurones in a mouse sympathetic ganglion.
I. Black
,
I. Hendry
,
L. L. Iversen
Brain Research
1971
Corpus ID: 35030718
Highly Cited
1971
Highly Cited
1971
STANDARDIZATION OF A RADIOCHEMICAL ASSAY OF CHOLINE ACETYLTRANSFERASE AND A STUDY OF THE ACTIVATION OF THE ENZYME IN RABBIT BRAIN
G. Bull
,
B. Oderfeld‐Nowak
Journal of Neurochemistry
1971
Corpus ID: 40085186
Abstract— 1 The standardization of a radiochemical assay of choline acetyltransferase (acetyl‐CoA: choline‐O‐acetyltransferase EC…
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