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。Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis
K. Reinhardt et al.
CLINICAL GENETICS (2010)
Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease
Seasson Phillips Vitiello et al.
HUMAN MOLECULAR GENETICS (2010)
Functional Consequences and Rescue Potential of Pathogenic Missense Mutations in Tripeptidyl Peptidase I
Mariusz Walus et al.
HUMAN MUTATION (2010)
The Neuronal Ceroid Lipofuscinosis Protein CLN5: New Insights into Cellular Maturation, Transport, and Consequences of Mutations
Mia-Lisa Schmiedt et al.
HUMAN MUTATION (2010)
Murine cathepsin D deficiency is associated with dysmyelination/myelin disruption and accumulation of cholesteryl esters in the brain
Aino-Liisa Mutka et al.
JOURNAL OF NEUROCHEMISTRY (2010)
Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis
Jui-Yun Lu et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Palmitoyl protein thioesterase 1 modulates tumor necrosis factor α-induced apoptosis
Claudine Tardy et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins
Annina Lyly et al.
BMC CELL BIOLOGY (2009)
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
Maria Kousi et al.
BRAIN (2009)
Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis
Jill M. Weimer et al.
BRAIN RESEARCH (2009)
Neuroprotection of Host Cells by Human Central Nervous System Stem Cells in a Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis
Stanley J. Tamaki et al.
CELL STEM CELL (2009)
Ankyrin-B is required for coordinated expression of beta-2-spectrin, the Na/K-ATPase and the Na/Ca exchanger in the inner segment of rod photoreceptors
Krishnakumar Kizhatil et al.
EXPERIMENTAL EYE RESEARCH (2009)
Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse
Shannon L. Macauley et al.
EXPERIMENTAL NEUROLOGY (2009)
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways
Richard I. Tuxworth et al.
HUMAN MOLECULAR GENETICS (2009)
Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses
Heather L. Ball et al.
HUMAN MOLECULAR GENETICS (2009)
Mutations in MFSD8/CLN7 Are a Frequent Cause of Variant-Late Infantile Neuronal Ceroid Lipofuscinosis
Chiara Aiello et al.
HUMAN MUTATION (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)
Retention of Lysosomal Protein CLN5 in the Endoplasmic Reticulum Causes Neuronal Ceroid Lipofuscinosis in Asian Sibship
Anne-Helene Lebrun et al.
HUMAN MUTATION (2009)
Crystal Structure and Autoactivation Pathway of the Precursor Form of Human Tripeptidyl-peptidase 1, the Enzyme Deficient in Late Infantile Ceroid Lipofuscinosis
Jayita Guhaniyogi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Lysosomal Serine Protease CLN2 Regulates Tumor Necrosis Factor-α-mediated Apoptosis in a Bid-dependent Manner
Helene Autefage et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Glutamate Transporter Coupling to Na,K-ATPase
Erin M. Rose et al.
JOURNAL OF NEUROSCIENCE (2009)
Na,K-ATPase Activity Regulates AMPA Receptor Turnover through Proteasome-Mediated Proteolysis
Dawei Zhang et al.
JOURNAL OF NEUROSCIENCE (2009)
Protein Product of CLN6 Gene Responsible for Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis Interacts with CRMP-2
Jared W. Benedict et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2009)
Mass Spectrometry-based Protein Profiling to Determine the Cause of Lysosomal Storage Diseases of Unknown Etiology
David E. Sleat et al.
MOLECULAR & CELLULAR PROTEOMICS (2009)
Non-muscle myosin II takes centre stage in cell adhesion and migration
Miguel Vicente-Manzanares et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2009)
Sdo1p, the yeast orthologue of Shwachman-Bodian-Diamond syndrome protein, binds RNA and interacts with nuclear rRNA-processing factors
Juliana S. Luz et al.
YEAST (2009)
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI
Sanna Toiviainen-Salo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Cathepsin D: A cellular roadmap
Nousheen Zaidi et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2008)
Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases
Carina von Schantz et al.
BMC GENOMICS (2008)
Cathepsin D protects human neuroblastoma cells from doxorubicin-induced cell death
Vitalia Sagulenko et al.
CARCINOGENESIS (2008)
Cathepsin D-Many functions of one aspartic protease
Petr Benes et al.
CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY (2008)
Functional roles of Na,K-ATPase subunits
Kaethi Geering
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION (2008)
Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex
Kristiina Uusi-Rauva et al.
EXPERIMENTAL CELL RESEARCH (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)
Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models
Chun-Hung Chan et al.
HUMAN MOLECULAR GENETICS (2008)
Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism
Annina Lyly et al.
HUMAN MOLECULAR GENETICS (2008)
Prosegment of tripeptidyl peptidase I is a potent, slow-binding inhibitor of its cognate enzyme
Adam A. Golabek et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice
Sung-Jo Kim et al.
JOURNAL OF CLINICAL INVESTIGATION (2008)
Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis
Sabrina Jabs et al.
JOURNAL OF NEUROCHEMISTRY (2008)
Notch: from neural development to neurological disorders
Justin D. Lathia et al.
JOURNAL OF NEUROCHEMISTRY (2008)
DREAM mediates cAMP-dependent, Ca2+-induced stimulation of GFAP gene expression and regulates cortical astrogliogenesis
Beatriz Cebolla et al.
JOURNAL OF NEUROSCIENCE (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)
Modulation by clamping: Kv4 and KChIP interactions
KeWei Wang
NEUROCHEMICAL RESEARCH (2008)
ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones
Hui Wei et al.
HUMAN MOLECULAR GENETICS (2008)
Solution structure and calcium-binding properties of EF-hands 3 and 4 of calsenilin
Liping Yu et al.
PROTEIN SCIENCE (2007)
Palmitoyl protein thioesterase 1 (Ppt1)-deficient mouse neurons show alterations in cholesterol metabolism and calcium homeostasis prior to synaptic dysfunction
Laura Ahtiainen et al.
NEUROBIOLOGY OF DISEASE (2007)
The catalytically inactive precursor of cathepsin D induces apoptosis in human fibroblasts and HeLa cells
Olga Schestkowa et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2007)
Differential regulation of ATP binding cassette protein A1 expression and apoA-I lipidation by Niemann-Pick type C1 in murine hepatocytes and macrophages
Ming-Dong Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
Eija Siintola et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1) -: distinct characteristics in neurons
Annina Lyly et al.
BMC CELL BIOLOGY (2007)
Altered regulation of phosphatidylinositol 3-kinase signaling in cathepsin D-deficient brain
Ken C. Walls et al.
AUTOPHAGY (2007)
Genetic modifiers of Drosophila palmitoyl-protein thioesterase 1-induced degeneration
Haley Buff et al.
GENETICS (2007)
Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency
R. Kalviainen et al.
EUROPEAN JOURNAL OF NEUROLOGY (2007)
C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes
Stephan Storch et al.
TRAFFIC (2007)
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast
Tobias F. Menne et al.
NATURE GENETICS (2007)
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis
N. Cannelli et al.
NEUROPEDIATRICS (2007)
Neuronal ceroid lipofuscinosis: A common pathway?
Dixie-Ann Persaud-Sawin et al.
PEDIATRIC RESEARCH (2007)
Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin
Jae-Woong Chang et al.
HUMAN MOLECULAR GENETICS (2007)
Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6
Claudia Heine et al.
MOLECULAR MEMBRANE BIOLOGY (2007)
Cathepsin D, a lysosomal protease, regulates ABCA1-mediated lipid efflux
Bassam Haidar et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Two novel CLN5 mutations in a Portuguese patient with vLINCL:: Insights into molecular mechanisms of CLN5 deficiency
C. Bessa et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Identification and validation of mannose 6-phosphate glycoproteins in human plasma reveal a wide range of lysosomal and non-lysosomal proteins
David E. Sleat et al.
MOLECULAR & CELLULAR PROTEOMICS (2006)
Characterizing pathogenic processes in Batten disease: Use of small eukaryotic model systems
Seasson N. Phillips et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)
Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments
Kaisu Luiro et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2006)
Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis
Jonathan D. Cooper et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)
Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates
Robert Steinfeld et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2006)
Tripeptidyl-peptidase I in health and disease
Adam A. Golabek et al.
BIOLOGICAL CHEMISTRY (2006)
Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL
Sung-Jo Kim et al.
HUMAN MOLECULAR GENETICS (2006)
Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease
Attila D. Kovacs et al.
NEUROBIOLOGY OF DISEASE (2006)
Cathepsin D deficiency is associated with a human neurodegenerative disorder
Robert Steinfeld et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Phylogeny, sequence conservation, and functional complementation of the SBDS protein family
G. R. B. Boocock et al.
GENOMICS (2006)
Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL
SJ Kim et al.
HUMAN MOLECULAR GENETICS (2006)
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis:: another genetic hit in the Mediterranean
N Cannelli et al.
NEUROGENETICS (2006)
You say lipofuscin, we say ceroid: Defining autofluorescent storage material
SS Seehafer et al.
NEUROBIOLOGY OF AGING (2006)
A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis
T Awano et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Determination of the substrate specificity of tripeptidyl-peptidase I using combinatorial peptide libraries and development of improved fluorogenic substrates
Y Tian et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of infantile neuronal ceroid lipofuscinosis
MA Griffey et al.
MOLECULAR THERAPY (2006)
Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis
MA Passini et al.
JOURNAL OF NEUROSCIENCE (2006)
The Shwachman-Bodian-Diamond syndrome gene encodes an RNA-binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis
D Wessels et al.
JOURNAL OF CELL SCIENCE (2006)
Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL
ZJ Zhang et al.
HUMAN MOLECULAR GENETICS (2006)
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
Eija Siintola et al.
BRAIN (2006)
Thalamocortical neuron loss and localized astrocytosis in the Cln3△ex7/8 knock-in mouse model of Batten disease
CC Pontikis et al.
NEUROBIOLOGY OF DISEASE (2005)
Function of FXYD proteins, regulators of Na,K-ATPase
K Geering
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES (2005)
Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice
T Virmani et al.
NEUROBIOLOGY OF DISEASE (2005)
CRMP-2 is involved in kinesin-1-dependent transport of the Sra-1/WAVE1 complex and axon formation
Y Kawano et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain:: a case study
M Hermansson et al.
JOURNAL OF NEUROCHEMISTRY (2005)
AAV2-Mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis
M Griffey et al.
MOLECULAR THERAPY (2005)
Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses
L Myllykangas et al.
NEUROBIOLOGY OF DISEASE (2005)
Elevation of Hook1 in a disease model of Batten disease does not affect a novel interaction between Ankyrin G and Hook1
JM Weimer et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2005)
The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy -: art. no. 27
L Lonka et al.
BMC NEUROSCIENCE (2005)
AP-1 and AP-3 facilitate lysosomal targeting of batten disease protein CLN3 via its dileucine motif
A Kyttälä et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
CLN3, the protein associated with batten disease: Structure, function and localization
SN Phillips et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2005)
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
N Pineda-Trujillo et al.
NEUROLOGY (2005)
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
SE Mole et al.
NEUROGENETICS (2005)
GSK-3β regulates phosphorylation of CRMP-2 and neuronal polarity
T Yoshimura et al.
CELL (2005)
Cathepsin D links TNF-induced acid sphingomyelinase to Bid-mediated caspase-9 and-3 activation
M Heinrich et al.
CELL DEATH AND DIFFERENTIATION (2004)
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity
K Tsiakas et al.
GLYCOBIOLOGY (2004)
N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I
P Wujek et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes
V Stepanovic et al.
CELL MOTILITY AND THE CYTOSKELETON (2004)
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)
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
SE Mole et al.
EXPERIMENTAL CELL RESEARCH (2004)
A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the Batten disease-related CLN3 protein are required for efficient lysosomal targeting
S Storch et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Structure and function of kv4-family transient potassium channels
SG Birnbaum et al.
PHYSIOLOGICAL REVIEWS (2004)
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway
K Luiro et al.
HUMAN MOLECULAR GENETICS (2004)
Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis
M Griffey et al.
NEUROBIOLOGY OF DISEASE (2004)
The cell biology of lysosomal storage disorders
AH Futerman et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2004)
The lysosomal degradation of neuromedin B is dependent on tripeptidyl peptidase-I: evidence for the impairment of neuropeptide degradation in late-infantile neuronal ceroid lipofuscinosis
S Kopan et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells
L Lonka et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2004)
The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain
V Holmberg et al.
NEUROBIOLOGY OF DISEASE (2004)
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes
R Steinfeld et al.
HUMAN MOLECULAR GENETICS (2004)
Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A
C Heine et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Intracellular calcium modulates the nuclear translocation of calsenilin
NF Zaidi et al.
JOURNAL OF NEUROCHEMISTRY (2004)
Role of CRMP-2 in neuronal polarity
N Arimura et al.
JOURNAL OF NEUROBIOLOGY (2004)
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to northern epilepsy
S Ranta et al.
HUMAN MUTATION (2004)
Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease
QW Mao et al.
FEBS LETTERS (2003)
Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein
J Ezaki et al.
JOURNAL OF NEUROCHEMISTRY (2003)
An over-expression system for characterizing Ppt1 function in Drosophila -: art. no. 30
CA Korey et al.
BMC NEUROSCIENCE (2003)
A fundamental role for KChIPs in determining the molecular properties and trafficking of Kv4.2 potassium channels
R Shibata et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
CRMP-2 regulates polarized Numb-mediated endocytosis for axon growth
T Nishimura et al.
NATURE CELL BIOLOGY (2003)
Membrane topology of CLN3, the protein underlying Batten disease
QW Mao et al.
FEBS LETTERS (2003)
Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I
AA Golabek et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice
M Koike et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2003)
Palmitoyl protein thioesterase 1 is targeted to the axons in neurons
L Ahtiainen et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2003)
Mutations in SBDS are associated with Shwachman-Diamond syndrome
GRB Boocock et al.
NATURE GENETICS (2003)
Cathepsin D mediates cytochrome c release and caspase activation in human fibroblast apoptosis induced by staurosporine
AC Johansson et al.
CELL DEATH AND DIFFERENTIATION (2003)
A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis
R Mazzei et al.
JOURNAL OF NEUROLOGY (2002)
Protein palmitoylation: A regulator of neuronal development and function
AED El-Husseini et al.
NATURE REVIEWS NEUROSCIENCE (2002)
Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis
F Bernardini et al.
BIOCHEMICAL JOURNAL (2002)
TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?
E Winter et al.
TRENDS IN BIOCHEMICAL SCIENCES (2002)
Neuronal ceroid lipofuscinoses are connected at molecular level:: Interaction of CLN5 protein with CLN2 and CLN3
J Vesa et al.
MOLECULAR BIOLOGY OF THE CELL (2002)
aph-1 and pen-2 are required for notch pathway signaling, γ-secretase cleavage of βAPP, and presenilin protein accumulation
R Francis et al.
DEVELOPMENTAL CELL (2002)
The effects of lysosomotropic agents on normal and INCL cells provide further evidence for the lysosomal nature of palmitoyl-protein thioesterase function
JY Lu et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2002)
An autoantibody inhibitory to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease
S Chattopadhyay et al.
HUMAN MOLECULAR GENETICS (2002)
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein
J Isosomppi et al.
HUMAN MOLECULAR GENETICS (2002)
Calsenilin enhances apoptosis by altering endoplasmic reticulum calcium signaling
C Lilliehook et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2002)
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
HL Gao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Magoh, a human homolog of Drosophila mago nashi protein, is a component of the splicing-dependent exon-exon junction complex
N Kataoka et al.
EMBO JOURNAL (2001)
CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease
K Luiro et al.
HUMAN MOLECULAR GENETICS (2001)
Activated Notch2 signaling inhibits differentiation of cerebellar granule neuron precursors by maintaining proliferation
DJ Solecki et al.
NEURON (2001)
CRMP-2 induces axons in cultured hippocampal neurons
N Inagaki et al.
NATURE NEUROSCIENCE (2001)
The specificity of lysosomal tripeptidyl peptidase-I determined by its action on angiotensin-II analogues
MJ Warburton et al.
FEBS LETTERS (2001)
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis
AK Das et al.
HUMAN MOLECULAR GENETICS (2001)
Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2
EK Choi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
The Golgi-associated Hook3 protein is a member of a novel family of microtubule-binding proteins
JH Walenta et al.
JOURNAL OF CELL 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)
Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)
M Lehtovirta et al.
HUMAN MOLECULAR GENETICS (2001)
The domain of brain β-spectrin responsible for synaptic vesicle association is essential for synaptic transmission
WE Zimmer et al.
BRAIN RESEARCH (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)
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
L Lonka et al.
HUMAN MOLECULAR GENETICS (2000)
A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration
J Tyynelä et al.
EMBO JOURNAL (2000)
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis
JJ Bellizzi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis
J Ezaki et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2000)
Modulation of A-type potassium channels by a family of calcium sensors
WF An et al.
NATURE (2000)
Expression of palmitoyl protein thioesterase in neurons
O Heinonen et al.
MOLECULAR GENETICS AND METABOLISM (2000)