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Wiley电子期刊(1)
SpringerLink电子期刊(45)
Elsevier电子期刊(143)
Springer电子图书(2)
NATURE电子期刊(1)
ACS电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
143
条,耗时:0.023987 秒
在所有数据库中总计命中:
193
条
1.
Phosphorylation regulates activity of 7-dehydrocholesterol reductase (DHCR7), a terminal enzyme of cholesterol synthesis
作者:
Anika V. Prabhu
1
;
Winnie Luu
1
;
Laura J. Sharpe
;
Andrew J. Brown
;
aj.brown@unsw.edu.au
关键词:
7DHC
;
7-dehydrocholesterol
;
AMPK
;
AMP-activated protein kinase
;
CaMKII
;
calmodulin-dependent kinase II
;
CHO
;
Chinese hamster ovary
;
CKI
;
casein kinase I
;
DHCR7
;
7-dehydrocholesterol reductase
;
HMGCR
;
3-hydroxy-3-methylglutaryl-CoA reductase
;
PBGD
;
porphobilinogen deaminase
;
PKA
;
protein kinase A
;
SLOS
;
Smith
-
Lemli
-
Opitz
syndrome
刊名:The Journal of Steroid Biochemistry and Molecular Biology
出版年:2017
2.
DHCR7: A vital enzyme switch between cholesterol and vitamin D production
作者:
Anika V. Prabhu
a
;
Winnie Luu
a
;
Dianfan Li
b
;
Laura J. Sharpe
a
;
Andrew J. Brown
a
;
aj.brown@unsw.edu.au
关键词:
7DHC
;
7-dehydrocholesterol
;
AEBS
;
antiestrogen binding site
;
DHCR7
;
7-dehydrocholesterol reductase
;
DHCR14
;
Δ14-sterol reductase
;
DHCR24
;
24-dehydrocholesterol reductase
;
EBP
;
emopamil binding protein
;
Hh
;
Hedgehog
;
HMGCR
;
3-hydroxy-3-methylglutaryl-CoA reductase
;
LBR
;
lamin B receptor
;
MaSR1
;
Methylomicrobium alcaliphilum 20Z sterol reductase
;
NADPH
;
nicotinamide adenine dinucleotide phosphate
;
NADSYN1
;
nicotinamide adenine dinucleotide synthetase 1
;
SNP
;
single nucleotide polymorphism
;
SLOS
;
S
刊名:Progress in Lipid Research
出版年:2016
3.
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay
作者:
Derek L. Weyhrauch
;
MD
a
;
1
;
Dan Ye
;
MD
b
;
1
;
Nicole J. Boczek
;
PhD
c
;
David J. Tester
;
BS
b
;
Ralitza H. Gavrilova
;
MD
d
;
e
;
Marc C. Patterson
;
MD
a
;
d
;
e
;
Eric D. Wieben
;
PhD
d
;
f
;
Michael J. Ackerman
;
MD
;
PhD
b
;
g
;
h
;
ackerman.michael@mayo.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
whole exome sequencing
;
genetics
;
CACNA1A
;
P/Q-type calcium channel
;
congenital hypotonia
;
developmental delay
刊名:Pediatric Neurology
出版年:2016
4.
Antioxidant Supplementation Ameliorates Molecular Deficits in
Smith
-
Lemli
-
Opitz
Syndrome
作者:
Zeljka Korade
;
Libin Xu
;
Fiona E. Harrison
;
Refayat Ahsen
;
Sarah E. Hart
;
Oakleigh M. Folkes
;
K谩roly Mirnics
;
Ned A. Porter
关键词:
Antioxidants
;
7-dehydrocholesterol
;
DHCEO
;
Dhcr7
;
oxysterol
;
Smith
-
Lemli
-
Opitz
Syndrome
刊名:Biological Psychiatry
出版年:1 February, 2014
5.
Bridging NCL research gaps
作者:
Frank Stehr
;
frank.stehr@ncl-stiftung.de" class="auth_mail" title="E-mail the corresponding author
;
Herman van der Putten
关键词:
NCL
;
neuronal ceroid lipofuscinosis
;
LSD
;
lysosomal storage disease
;
ERT
;
enzyme replacement therapy
;
ER
;
endoplasmic reticulum
;
PoC
;
proof-of-concept
;
iPS cell
;
induced pluripotent stem cell
;
PD
;
Parkinson's disease
;
NPC
;
Niemann&ndash
;
Pick type C
;
SLOS
;
Smith
&ndash
;
Lemli
&ndash
;
Opitz
syndrome
;
FTLD
;
frontotemporal lobe degeneration
;
JNCL
;
juvenile NCL
;
EU
;
European Union
;
DEM-CHILD
;
dementia in childhood
;
EEG
;
electroencephalography
;
MRI
;
magnetic resonance imaging
刊名:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
出版年:2015
6.
Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of
Smith
-
Lemli
-
Opitz
syndrome
作者:
Z. Korade
b
;
c
;
1
;
O.M. Folkes
a
;
1
;
F.E. Harrison
a
;
c
;
Fiona.Harrison@Vanderbilt.edu
关键词:
Cholesterol
;
Behavior
;
Serotonin
;
Smith
&ndash
;
Lemli
&ndash
;
Opitz
syndrome
;
Autism
;
Pharmacological testing
刊名:Pharmacology Biochemistry and Behavior
出版年:2013
7.
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of
Smith
-
Lemli
-
Opitz
Syndrome
作者:
Patricia Hall
;
Virginia Michels
;
Dimitar Gavrilov
;
Dietrich Matern
;
Devin Oglesbee
;
Kimiyo Raymond
;
Piero Rinaldo
;
Silvia Tortorelli
关键词:
SLOS
;
Smith
&ndash
;
Lemli
&ndash
;
Opitz
Syndrome
;
7DHC
;
7-dehydrocholesterol
;
8DHC
;
8-dehydrocholesterol
刊名:Molecular Genetics and Metabolism
出版年:2013
8.
7-Dehydrocholesterol metabolites produced by sterol 27-hydroxylase (CYP27A1) modulate liver X receptor activity
作者:
Kaori Endo-Umeda
;
Kaori Yasuda
;
Kazuyuki Sugita
;
Akira Honda
;
Miho Ohta
;
Minoru Ishikawa
;
Yuichi Hashimoto
;
Toshiyuki Sakaki
;
Makoto Makishima
关键词:
LXR
;
liver X receptor
;
SREBP
;
sterol regulatory element-binding protein
;
7-DHC
;
7-dehydrocholesterol
;
CYP27A1
;
sterol 27-hydroxylase
;
CYP27B1
;
25-hydroxyvitamin D 1伪-hydroxylase
;
1
;
25(OH)2D3
;
1伪
;
25-dihydroxyvitamin D3
;
DHCR7
;
3尾-hydroxysterol-螖7-reductase
;
SLOS
;
Smith
&ndash
;
Lemli
&ndash
;
Opitz
syndrome
;
HPLC
;
high-performance liquid chromatography
;
GST
;
glutathione S-transferase
;
ABCA1
;
ATP-binding cassette transporter A1
;
siRNA
;
small interfering RNA
刊名:The Journal of Steroid Biochemistry and Molecular Biology
出版年:March, 2014
9.
DHCEO accumulation is a critical mediator of pathophysiology in a
Smith
-
Lemli
-
Opitz
syndrome
model
作者:
Libin Xu
a
;
Karoly Mirnics
b
;
Aaron B. Bowman
c
;
Wei Liu
a
;
Jennifer Da
b
;
Ned A. Porter
a
;
Zeljka Korade
b
;
zeljka.korade@vanderbilt.edu
关键词:
7-Dehydrocholesterol
;
Oxysterol
;
DHCEO
;
Cortical neurons
;
Smith
&ndash
;
Lemli
&ndash
;
Opitz
syndrome
刊名:Neurobiology of Disease
出版年:2012
10.
Analysis by liquid chromatography-mass spectrometry of sterols and oxysterols in brain of the newborn Dhcr7
¦¤3-5/T93M
mouse: A model of
Smith
-
Lemli
-
Opitz
syndrome
作者:
Anna Meljon
a
;
Gordon L. Watson
b
;
Yuqin Wang
a
;
Cedric H.L. Shackleton
b
;
William J. Griffiths
a
;
w.j.griffiths@swansea.ac.uk
关键词:
Cholesterol
;
7-Dehydrocholesterol
;
3¦Â-Hydroxysterol-¦¤7-reductase
;
Hydroxy-7-dehydrocholesterol
;
7-Dehydrodesmosterol
刊名:Biochemical Pharmacology
出版年:2013
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