The genetic spectrum of human neuronal ceroid-lipofuscinoses.
about
Defective lysosomal arginine transport in juvenile Batten diseasePalmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and miceBtn2, a Hook1 ortholog and potential Batten disease-related protein, mediates late endosome-Golgi protein sorting in yeast.Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissueA critical tryptophan and Ca2+ in activation and catalysis of TPPI, the enzyme deficient in classic late-infantile neuronal ceroid lipofuscinosisHigh resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten diseaseAutophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosisMurine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease.Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.Characterization of the canine CLCN3 gene and evaluation as candidate for late-onset NCL.A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.Oxidative stress and autophagy in the regulation of lysosome-dependent neuron death.Immunosuppression alters disease severity in juvenile Batten disease miceAtypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.Cathepsin deficiency as a model for neuronal ceroid lipofuscinoses.Palmitoyl-protein thioesterase 1 deficiency in Drosophila melanogaster causes accumulation of abnormal storage material and reduced life spanCathepsin D deficiency is associated with a human neurodegenerative disorder.A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.Batten disease: features to facilitate early diagnosisEvaluation of neurodegeneration in a mouse model of infantile batten disease by magnetic resonance imaging and magnetic resonance spectroscopy.Plasma biomarkers for neuronal ceroid lipofuscinosis.Monitoring autophagy in lysosomal storage disordersTranscript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse modelsEpilepsy in children--when should we think neurometabolic disease?The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration.JNCL patients show marked brain volume alterations on longitudinal MRI in adolescence.[Neuronal ceroid lipofuscinosis: clinical and neuroradiological findings].Diagnosis of Neuronal Ceroid Lipofuscinosis (Batten Disease) by Electron Microscopy in Peripheral Blood Specimens
P2860
Q24292865-3EB1C090-A871-4941-9E60-B63E6EF6F946Q24644885-FDE3C769-DA7E-4D28-9054-A6D0A8FB1F2CQ27934041-DF622B0D-EF3E-414B-BE9F-E462460E9F27Q28114924-53A863C0-6F49-4A3B-815E-92933F626FB8Q28475003-A1071B40-9378-4D1B-9866-29020B4DEC79Q28505711-B8FAD178-D54D-4EEB-BC1D-5FCB2C6F2884Q28591948-C462C8AD-E898-4B88-8BB3-FF27A1E44801Q30477117-55995FEE-1358-4463-9C4C-3B2D350572DBQ30499606-A0A48972-2ADB-443F-A622-140DD016E6A5Q33235426-B74A3B1A-8A0B-4A6B-8DBD-5482B78CC6E5Q33626697-48AD33C9-B022-4DF0-AC54-D1B51E1CD42BQ34055332-7CBA0C28-EC0F-4F35-8094-610B724D1EDEQ34104922-8ACDF410-5C90-4D39-9441-3E40848E8B1BQ34142898-BAFE7357-9C1D-4B74-8EE6-7B1A35C735BFQ34209567-59DCDED7-18FE-45D7-BDAE-2AE540B6E791Q34562951-6E85BBC2-2844-4D1B-BEFB-9A323FFD1C9DQ34588532-F435B5EE-C9F0-4BAD-8A65-CD618B01D26AQ34658270-0CD6B2BF-1898-4F26-A523-290F72B88828Q34851330-0412B58D-982D-4AD4-BEA5-BF0BF3855437Q35561773-1934F0E9-0E96-448B-897B-CDAF89F0B0D7Q35762479-D65EB6A0-97E7-41BD-9C34-286AD77080B1Q36013977-6995467D-475D-405C-9B04-C820ABA83589Q36552581-6BF9A04D-A53B-4B14-B9B2-8F0845EC05E3Q37159173-C5AA9B5C-0A0F-4EB0-9D66-EA454E4CB7D9Q37294803-B9DFE916-6473-4231-ABB5-14D117ADE523Q37989420-800C099A-79CD-4F91-AB2A-5F593B292A5EQ39173871-230B5735-493B-4467-A006-9E2186C4A3D0Q48209638-80C01812-2E44-4772-9E7F-83B670F924B7Q49014007-92F7F36E-9570-4C8B-8412-A9A6D9177577Q53474568-2C804FCF-B67D-4019-A3CD-4704D29EA39EQ57523078-CA782DDE-E60E-4B02-906A-0F2C2B873679
P2860
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
description
2004 nî lūn-bûn
@nan
2004 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
@ast
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
@en
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
@nl
type
label
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
@ast
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
@en
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
@nl
prefLabel
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
@ast
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
@en
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
@nl
P2860
P1433
P1476
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
@en
P2860
P356
10.1111/J.1750-3639.2004.TB00500.X
P407
P50
P577
2004-01-01T00:00:00Z