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。CLN3 regulates endosomal function by modulating Rab7A-effector interactions
Seda Yasa et al.
JOURNAL OF CELL SCIENCE (2020)
Therapeutic landscape for Batten disease: current treatments and future prospects
Tyler B. Johnson et al.
NATURE REVIEWS NEUROLOGY (2019)
Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy
Qing Ke et al.
WORLD JOURNAL OF PEDIATRICS (2019)
An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials
Basil T. Darras et al.
CNS DRUGS (2019)
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
Darryl C. De Vivo et al.
NEUROMUSCULAR DISORDERS (2019)
Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives
Tamara Dangouloff et al.
THERAPEUTICS AND CLINICAL RISK MANAGEMENT (2019)
Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression
Emelie Perland et al.
OPEN BIOLOGY (2017)
Efficacy of Phosphodiesterase-4 Inhibitors in Juvenile Batten Disease (CLN3)
Amy Aldrich et al.
ANNALS OF NEUROLOGY (2016)
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
Daniel J. Klionsky et al.
AUTOPHAGY (2016)
Therapeutic correction of ApoER2 splicing in Alzheimer's disease mice using antisenseoligonucleotides
Anthony J. Hinrich et al.
EMBO MOLECULAR MEDICINE (2016)
Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis
David E. Sleat et al.
GENE (2016)
Splice-switching antisense oligonucleotides as therapeutic drugs
Mallory A. Havens et al.
NUCLEIC ACIDS RESEARCH (2016)
Genetics of the neuronal ceroid lipofuscinoses (Batten disease)
Sara E. Mole et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2015)
Cell biology of the NCL proteins: What they do and don't do
Jaime Carcel-Trullols et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2015)
An overview of the clinical application of antisense oligonucleotides for RNA-targeting therapies
Graham McClorey et al.
CURRENT OPINION IN PHARMACOLOGY (2015)
Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender
Attila D. Kovacs et al.
DISEASE MODELS & MECHANISMS (2015)
Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function
Uma Chandrachud et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
I-TASSER server: new development for protein structure and function predictions
Jianyi Yang et al.
NUCLEIC ACIDS RESEARCH (2015)
The TOPCONS web server for consensus prediction of membrane protein topology and signal peptides
Konstantinos D. Tsirigos et al.
NUCLEIC ACIDS RESEARCH (2015)
Protter: interactive protein feature visualization and integration with experimental proteomic data
Ulrich Omasits et al.
BIOINFORMATICS (2014)
Defective macroautophagic turnover of brain lipids in the TgCRND8 Alzheimer mouse model: prevention by correcting lysosomal proteolytic deficits
Dun-Sheng Yang et al.
BRAIN (2014)
Partial Correction of the CNS Lysosomal Storage Defect in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Neonatal CNS Administration of an Adeno-Associated Virus Serotype rh. 10 Vector Expressing the Human CLN3 Gene
Dolan Sondhi et al.
HUMAN GENE THERAPY (2014)
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Feng Wang et al.
HUMAN GENETICS (2014)
Dysregulation of protein trafficking in neurodegeneration
Xin Wang et al.
MOLECULAR NEURODEGENERATION (2014)
Evidence for Aberrant Astrocyte Hemichannel Activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)
Maria Burkovetskaya et al.
PLOS ONE (2014)
Pharmacology of a Central Nervous System Delivered 2′-O-Methoxyethyl-Modified Survival of Motor Neuron Splicing Oligonucleotide in Mice and Nonhuman Primates
Frank Rigo et al.
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS (2014)
Alterations in ROS Activity and Lysosomal pH Account for Distinct Patterns of Macroautophagy in LINCL and JNCL Fibroblasts
Jose Manuel Vidal-Donet et al.
PLOS ONE (2013)
Aβ Secretion and Plaque Formation Depend on Autophagy
Per Nilsson et al.
CELL REPORTS (2013)
Mutant human APP exacerbates pathology in a mouse model of NPC and its reversal by a β-cyclodextrin
Mahua Maulik et al.
HUMAN MOLECULAR GENETICS (2012)
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)
Females experience a more severe disease course in batten disease
Jennifer Cialone et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Lithium rescues the impaired autophagy process in CbCln3Δex7/8/Δex7/8 cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition
Jae-Woong Chang et al.
JOURNAL OF NEUROCHEMISTRY (2011)
Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease
Attila D. Kovacs et al.
NEUROPHARMACOLOGY (2011)
AZD8055 Is a Potent, Selective, and Orally Bioavailable ATP-Competitive Mammalian Target of Rapamycin Kinase Inhibitor with In vitro and In vivo Antitumor Activity
Christine M. Chresta et al.
CANCER RESEARCH (2010)
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2010)
I-TASSER: a unified platform for automated protein structure and function prediction
Ambrish Roy et al.
NATURE PROTOCOLS (2010)
Neurodevelopmental delay in the Cln3Δex7/8 mouse model for Batten disease
N. S. Osorio et al.
GENES BRAIN AND BEHAVIOR (2009)
OCTOPUS: improving topology prediction by two-track ANN-based preference scores and an extended topological grammar
Hakan Viklund et al.
BIOINFORMATICS (2008)
SPOCTOPUS: a combined predictor of signal peptides and membrane protein topology
Hakan Viklund et al.
BIOINFORMATICS (2008)
The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data
Timothy Nugent et al.
FEBS LETTERS (2008)
Prediction of membrane-protein topology from first principles
Andreas Bernsel et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Transmembrane Topology and Signal Peptide Prediction Using Dynamic Bayesian Networks
Sheila M. Reynolds et al.
PLOS COMPUTATIONAL BIOLOGY (2008)
Dissection of the autophagosome maturation process by a novel reporter protein, tandem fluorescent-tagged LC3
Shunsuke Kimura et al.
AUTOPHAGY (2007)
Antisense oligonucleotides containing locked nucleic acid improve potency but cause significant hepatotoxicity in animals
Eric E. Swayze et al.
NUCLEIC ACIDS RESEARCH (2007)
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
Yi Cao et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
An HMM posterior decoder for sequence feature prediction that includes homology information
L Käll et al.
BIOINFORMATICS (2005)
Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells
A Kyttälä et al.
MOLECULAR BIOLOGY OF THE CELL (2004)
Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation
CC Pontikis et al.
BRAIN RESEARCH (2004)
A combined transmembrane topology and signal peptide prediction method
L Käll et al.
JOURNAL OF MOLECULAR BIOLOGY (2004)
Cln3Δex7/8 knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth
SL Cotman et al.
HUMAN MOLECULAR GENETICS (2002)
Lipofuscin and Aβ42 exhibit distinct distribution patterns in normal and Alzheimer's disease brains
MR D'Andrea et al.
NEUROSCIENCE LETTERS (2002)
Early-onset amyloid deposition and cognitive deficits in transgenic mice expressing a double mutant form of amyloid precursor protein 695
MA Chishti et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
分享论文
