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内部出版物
在“
Elsevier电子期刊
”中,
命中:
9
条,耗时:小于0.01 秒
1.
Identification of two novel synaptic ¦Ã-secretase associated proteins that affect amyloid ¦Â-peptide levels without altering Notch processing
作者:
Susanne Frykman
;
Yasuhiro Teranishi
;
Ji-Yeun Hur
;
Anna S
;
ebring
;
Natsuko Goto Yamamoto
;
Maria Ancarcrona
;
Takeshi Nishimura
;
Bengt Winblad
;
Nenad Bogdanovic
;
Sophia Schedin-Weiss
;
Takahiro Kihara
;
Lars O. Tjernberg
关键词:
A¦Â
;
amyloid ¦Â-peptide
;
AD
;
Alzheimer disease
;
APP
;
amyloid precursor protein
;
CFL1
;
cofilin-1
;
CTF
;
carboxyterminal fragment
;
GCB
;
¦Ã-secretase inhibitor with a cleavable biotin moiety
;
GSAP
;
¦Ã-secretase associated protein
;
HEK
;
human embryonic kidney
刊名:Neurochemistry International
出版年:2012
2.
A novel mutation of the
NDUFS7
gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome
作者:
Sophie Lebon
;
Limor Minai
;
Dominique Chretien
;
Johanna Corcos
;
Valé
;
rie Serre
;
Noman Kadhom
;
Julie Steffann
;
Jean-Yves Pauchard
;
Arnold Munnich
;
Jean-Paul Bonnefont
;
Agnè
;
s Rö
;
tig
关键词:
Mitochondria
;
Leigh syndrome
;
NDUFS7
;
Complex I assembly
;
Cryptic exon
刊名:Molecular Genetics and Metabolism
出版年:2007
3.
A novel mutation in the human complex I
NDUFS7
subunit associated with Leigh syndrome
作者:
Sophie Lebon
;
Diana Rodriguez
;
Delphine Bridoux
;
Amal Zerrad
;
Agnè
;
s Rö
;
tig
;
Arnold Munnich
;
Alain Legr
;
Abdelhamid Slama
关键词:
Respiratory chain deficiency
;
Mitochondria
;
Leigh syndrome
;
NDUSF7
;
Complex I deficiency
刊名:Molecular Genetics and Metabolism
出版年:2007
4.
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects
作者:
Hé
;
lè
;
ne Pagniez-Mammeri
;
Anne Lombes
;
Michè
;
le Brivet
;
Hé
;
lè
;
ne Ogier-de Baulny
;
Pierre L
;
rieu
;
Alain Legr
;
Abdelhamid Slama
关键词:
Mitochondrial complex I deficiency
;
Respiratory chain diseases
;
Surveyor nuclease
;
Mutation screening
刊名:Molecular Genetics and Metabolism
出版年:2009
5.
Mitigation of NADH: Ubiquinone oxidoreductase deficiency by chronic Trolox treatment
作者:
Werner J.H. Koopman
;
Sjoerd Verkaart
;
Sjenet E. van Emst-de Vries
;
S
;
er Grefte
;
Jan A.M. Smeitink
;
Leo G.J. Nijtmans
;
Peter H.G.M. Willems
关键词:
Mitochondria
;
Complex I deficiency
;
Reactive oxygen species
;
Vitamin E
刊名:Biochimica et Biophysica Acta (BBA)/Bioenergetics
出版年:2008
6.
Genetic variants of Complex I in multiple sclerosis
作者:
Vyshkina
;
Tamara
;
Banisor
;
Ileana
;
Shugart
;
Yin Yao
;
Leist
;
Thomas P.
;
Kalman
;
Bernadette
关键词:
Multiple sclerosis
;
Neurodegeneration
;
Complex I
;
Genetics
;
SNP
刊名:Journal of the Neurological Sciences
出版年:2005
7.
Clinical and molecular findings in children with complex I deficiency
作者:
Bugiani
;
M.
;
Invernizzi
;
F.
;
Alberio
;
S.
;
Briem
;
E.
;
Lamantea
;
E.
;
Carrara
;
F.
;
Moroni
;
I.
;
Farina
;
L.
;
et. al.
关键词:
Mitochondrial disorder
;
Children
;
Complex I deficiency
;
mtDNA mutation
;
Nuclear DNA mutation
刊名:Biochimica et Biophysica Acta (BBA)/Bioenergetics
出版年:2004
8.
Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY
作者:
Ahlers
;
Pamela M.
;
Garofano
;
Aurelio
;
Kerscher
;
Stefan J.
;
Brandt
;
Ulrich
关键词:
Mitochondria
;
Complex I
;
Yeast
;
Yarrowia lipolytica
;
Leigh syndrome
;
Point mutation
;
dNADH
;
deamino-NADH
;
HAR
;
hexamine-ruthenium(III)-chloride
;
DBQ
;
2-n-decyl-ubiquinone
;
DQA
;
2-decyl-4-quinazolinyl amine
刊名:Biochimica et Biophysica Acta (BBA)/Bioenergetics
出版年:2000
9.
Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1
作者:
Paule Bé
;
nit
;
Dominique Chretien
;
Nohman Kadhom
;
Pascale de Lonlay-Debeney
;
Valé
;
rie Cormier-Daire
;
Aguinaldo Cabral
;
Sylviane Peudenier
;
Pierre Rustin
;
Arnold Munnich
;
Agnè
;
s Rö
;
tig
刊名:The American Journal of Human Genetics
出版年:2001
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