相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Update of the Mutation Spectrum and Clinical Correlations of over 360 Mutations in Eight Genes that Underlie the Neuronal Ceroid Lipofuscinoses
Maria Kousi et al.
HUMAN MUTATION (2012)
The epidemiology of progressive intellectual and neurological deterioration in childhood
Christopher Verity et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2010)
A novel functional role of iduronate-2-sulfatase in zebrafish early development
Enrico Moro et al.
MATRIX BIOLOGY (2010)
Zebrafish Behavioral Profiling Links Drugs to Biological Targets and Rest/Wake Regulation
Jason Rihel et al.
SCIENCE (2010)
Complex I deficiency and dopaminergic neuronal cell loss in parkin-deficient zebrafish (Danio rerio)
Laura Flinn et al.
BRAIN (2009)
Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis
Jill M. Weimer et al.
BRAIN RESEARCH (2009)
Autophagy, immunity and human disease
Robert J. Heath et al.
CURRENT OPINION IN GASTROENTEROLOGY (2009)
A Novel CLN8 Mutation in Late-Infantile-Onset Neuronal Ceroid Lipofuscinosis (LINCL) Reveals Aspects of CLN8 Neurobiological Function
Chiara Vantaggiato et al.
HUMAN MUTATION (2009)
MPTP and MPP plus target specific aminergic cell populations in larval zebrafish
V. . Sallinen et al.
JOURNAL OF NEUROCHEMISTRY (2009)
Genetic modulation of apoptotic pathways fails to alter disease course in tripeptidyl-peptidase 1 deficient mice
Kwi-Hye Kim et al.
NEUROSCIENCE LETTERS (2009)
A Primer for Morpholino Use in Zebrafish
Brent R. Bill et al.
ZEBRAFISH (2009)
Zebrafish: an emerging technology for in vivo pharmacological assessment to identify potential safety liabilities in early drug discovery
T. P. Barros et al.
BRITISH JOURNAL OF PHARMACOLOGY (2008)
Loss of PINK1 function affects development and results in neurodegeneration in zebrafish
Oleg Anichtchik et al.
JOURNAL OF NEUROSCIENCE (2008)
The mannose 6-phosphate glycoprotein proteome
David E. Sleat et al.
JOURNAL OF PROTEOME RESEARCH (2008)
Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis
David E. Sleat et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis
Michael Chang et al.
MOLECULAR THERAPY (2008)
Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease
Mario A. Cabrera-Salazar et al.
MOLECULAR THERAPY (2007)
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
Eija Siintola et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis
Tomoyuki Awano et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Diagnosis of the neuronal ceroid lipofuscinoses:: An update
Ruth E. Williams et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)
In vivo recording of adult zebrafish electrocardiogram and assessment of drug-induced QT prolongation
David J. Milan et al.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY (2006)
Activation of non-neuronal cells within the prenatal developing brain of sheep with neuronal ceroid lipofuscinosis
Graham W. Kay et al.
BRAIN PATHOLOGY (2006)
Proteomics of early zebrafish embryos
V Link et al.
BMC DEVELOPMENTAL BIOLOGY (2006)
Ser475, Glu272, Asp276, Asp327, and Asp360 are involved in catalytic activity of human tripeptidyl-peptidase I
M Walus et al.
FEBS LETTERS (2005)
Pentylenetetrazole induced changes in zebrafish behavior, neural activity and c-FoS expression
SC Baraban et al.
NEUROSCIENCE (2005)
Acute effects of alcohol on larval zebrafish: a genetic system for large-scale screening
B Lockwood et al.
PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR (2004)
Swimming of larval zebrafish:: ontogeny of body waves and implications for locomotory development
UK Müller et al.
JOURNAL OF EXPERIMENTAL BIOLOGY (2004)
Development of the zebrafish lateral line
A Ghysen et al.
CURRENT OPINION IN NEUROBIOLOGY (2004)
Zebrafish as a pharmacological tool: the how, why and when
P Goldsmith
CURRENT OPINION IN PHARMACOLOGY (2004)
A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration
DE Sleat et al.
JOURNAL OF NEUROSCIENCE (2004)
Selectivity and types of cell death in the neuronal ceroid lipofuscinoses (NCLs)
HM Mitchison et al.
BRAIN PATHOLOGY (2004)
Current state of clinical and morphological features in human NCL
HH Goebel et al.
BRAIN PATHOLOGY (2004)
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses
J Ezaki et al.
BRAIN PATHOLOGY (2004)
Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I
AA Golabek et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Anatomy of neurogenesis in the early zebrafish brain
T Mueller et al.
DEVELOPMENTAL BRAIN RESEARCH (2003)
Steps during the development of the zebrafish locomotor network
E Brustein et al.
JOURNAL OF PHYSIOLOGY-PARIS (2003)
Apoptosis in the developing zebrafish embryo
LK Cole et al.
DEVELOPMENTAL BIOLOGY (2001)
The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH
L Lin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Effective targeted gene 'knockdown' in zebrafish
A Nasevicius et al.
NATURE GENETICS (2000)
Tripeptidyl peptidase I, the late infantile neuronal ceroid lipofuscinosis gene product, initiates the lysosomal degradation of subunit c of ATP synthase
J Ezaki et al.
JOURNAL OF BIOCHEMISTRY (2000)
Cell turnover in neuromasts of zebrafish larvae
JA Williams et al.
HEARING RESEARCH (2000)
MRI in neuronal ceroid lipofuscinosis
L D'Incerti
NEUROLOGICAL SCIENCES (2000)