دانلود مقالات ISI درباره lipophuscinosis ceroid neuronal + ترجمه فارسی

Tripeptidil peptidasa 1 en pacientes con ceroidolipofuscinosis neuronal infantil tardía

Keywords: lipophuscinosis ceroid neuronal; Ceroidolipofuscinosis; Enfermedad neurodegenerativa; Tripeptidil Peptidasa 1Neurodegenerative disease; Neuronal ceroid lipofuscinosis; Tripeptidyl peptidase I

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

Keywords: lipophuscinosis ceroid neuronal; NCL; neuronal ceroid lipofuscinosis; PPT1; palmitoyl-protein thioesterase-1; CLN1; ceroid lipofuscinosis, neuronal-1; GROD; granular osmiophilic deposits; FBS; fetal bovine serum; MU-6S-Palm-βGlc; 4-methylumbelliferyl-6-thiopalmitoyl-β-D-glucoside; PBS;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2012 سفارش ترجمه

Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7

Keywords: lipophuscinosis ceroid neuronal; BFA; brefeldin A; CHX; cycloheximide; Ctsb; cathepsin B; Ctsl; cathepsin L; DMEM; Dulbecco's minimal essential medium; endo H; endoglycosidase H; ER; endoplasmic reticulum; GFP; green fluorescent protein; HEK293; human embryonic kidney 293; HGSNAT; hepari

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2012 سفارش ترجمه

A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures

Keywords: lipophuscinosis ceroid neuronal; CLN3; Neuronal ceroid lipofuscinosis; JNCL; Thalamus; Hippocampal formation; Red nucleus; Reticular formation; Cerebellum; Retina; Mouse model

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2011 سفارش ترجمه

A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: Identification and characterization of differentially expressed proteins

Keywords: lipophuscinosis ceroid neuronal; Neuronal ceroid lipofuscinosis; Batten disease; Proteomics; PF2D; Cytoskeleton

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2011 سفارش ترجمه

Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function

Keywords: lipophuscinosis ceroid neuronal; Neuronal Ceroid Lipofuscinosis; Batten Disease; Palmitoylation; Palmitoyl-protein thioesterase 1; Trafficking; Endocytosis; Drosophila models

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2010 سفارش ترجمه

Genetic modulation of apoptotic pathways fails to alter disease course in tripeptidyl-peptidase 1 deficient mice

Keywords: lipophuscinosis ceroid neuronal; Neuronal ceroid lipofuscinosis; Apoptosis; Tripeptidyl-peptidase 1; Lysosome; Bcl-2; p53;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2009 سفارش ترجمه

Spectral properties and mechanisms that underlie autofluorescent accumulations in Batten disease

Keywords: lipophuscinosis ceroid neuronal; Autofluorescent storage material; Neuronal Ceroid Lipofuscinosis; Microtubule assembly; Non-muscle myosin II;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2009 سفارش ترجمه

Neuronal ceroid lipofuscinosis in a 31-year-old woman presenting as biventricular heart failure with restrictive features

Keywords: lipophuscinosis ceroid neuronal; Neuronal ceroid lipofuscinosis; Cardiac storage disease; Cardiac arrhythmia; Heart failure

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2009 سفارش ترجمه

Chloride channelopathies

Keywords: lipophuscinosis ceroid neuronal; Bartter syndrome; CFTR; Dent's disease; Gnathodiaphyseal dysplasia; Macular dystrophy; Neuronal ceroid lipofuscinosis; NCL; Thomsen's disease

دانلود رایگان متن کامل مقاله ISI 17 صفحه سال انتشار : 2009 سفارش ترجمه

Infantile neuronal ceroid lipofuscinosis: The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency

Keywords: lipophuscinosis ceroid neuronal; Blind; Electroretinogram; Infant; Deterioration; Neuronal ceroid lipofuscinosis; Palmitoyl-protein thioesterase

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

CLN2/TPP1 deficiency: The novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype

Keywords: lipophuscinosis ceroid neuronal; Neuronal ceroid lipofuscinosis; Late infantile neuronal ceroid lipofuscinosis; LINCL; Chronic phenotype; TPP1 deficiency; CLN2 gene; Splicing mutations; Intronic gene defects; Lysosomal storage disorders

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2008 سفارش ترجمه

Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis

Keywords: lipophuscinosis ceroid neuronal; Neuronal ceroid lipofuscinosis; Mouse model; Hypomorph; Lysosomal storage disease;

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2008 سفارش ترجمه

Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis

Keywords: lipophuscinosis ceroid neuronal; Batten disease; Neuronal ceroid lipofuscinosis; CLN6; GABAergic interneurons; Ovine model; Lysosomal storage disease

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2008 سفارش ترجمه

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

Keywords: lipophuscinosis ceroid neuronal; Neuronal ceroid lipofuscinosis; Epilepsy; CLN8; Magnetic resonance imaging; Electroencephalography

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2007 سفارش ترجمه

A novel role of the Batten disease gene CLN3: Association with BMP synthesis

Keywords: lipophuscinosis ceroid neuronal; Neuronal Ceroid Lipofuscinosis; Batten disease; CLN3; Bis(monoacylglycerol)phosphate; Lysobisphosphatidic acid; Detergent-resistant microdomains

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2007 سفارش ترجمه

Protracted juvenile neuronal ceroid lipofuscinosis—An autopsy report and immunohistochemical analysis

Keywords: lipophuscinosis ceroid neuronal; Neuronal ceroid lipofuscinosis; Protracted juvenile form; Autopsy; Immunohistochemistry; Oxidative stress; Glutamate transporter

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2006 سفارش ترجمه

Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: Further evidence that CLN3P has anti-apoptotic properties

Keywords: lipophuscinosis ceroid neuronal; Batten disease; Neuronal ceroid lipofuscinosis; Inherited neurodegenerative disease; Neuronal apoptosis; Cytokines; Pancreatic-derived factor

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2006 سفارش ترجمه

A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis

Keywords: lipophuscinosis ceroid neuronal; Canine; Lysosomal storage disease; Neuronal ceroid lipofuscinosis; CLN2; Tripeptidylpeptidase 1

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2006 سفارش ترجمه

A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

Keywords: lipophuscinosis ceroid neuronal; Neuronal ceroid lipofuscinosis; CTSD; Cathepsin D; Canine; Missense mutation

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2006 سفارش ترجمه

Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G > C and R208X in CLN2

Keywords: lipophuscinosis ceroid neuronal; CLN1; CLN2; CLN3; Neuronal ceroid lipofuscinosis; Batten disease; LightCycler; Nucleobase quenching; Mutation

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2006 سفارش ترجمه

Molecular genetics of the NCLs — status and perspectives

Keywords: lipophuscinosis ceroid neuronal; Batten; CLN; Gene; Mutation; NCL; Neuronal ceroid lipofuscinosis

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2006 سفارش ترجمه

Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease

Keywords: lipophuscinosis ceroid neuronal; Cerebellar granule cells; Cortical cultures; Cerebellar slice cultures; AMPA; Kainate; NMDA; Neuronal ceroid lipofuscinosis; Batten disease

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2006 سفارش ترجمه

You say lipofuscin, we say ceroid: Defining autofluorescent storage material

Keywords: lipophuscinosis ceroid neuronal; Aging; Autofluorescent storage material; Lipofuscin; Ceroid; Neuronal ceroid lipofuscinosis; Lysosome; Batten disease

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2006 سفارش ترجمه

Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis

Keywords: lipophuscinosis ceroid neuronal; Mouse; Model; Neuronal ceroid lipofuscinosis; Batten disease; Zebrafish; Neurodegeneration

دانلود رایگان متن کامل مقاله ISI 17 صفحه سال انتشار : 2006 سفارش ترجمه

A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs

Keywords: lipophuscinosis ceroid neuronal; Neuronal ceroid lipofuscinosis; Border collie; Linkage mapping; Neurodegeneration; Animal model;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2005 سفارش ترجمه