Results 151 to 160 of about 4,913 (183)
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Specific substrate for CLN2 proteaseltripeptidylpeptidaseI assay
European Journal of Paediatric Neurology, 2001The classic late infantile neuronal ceroid lipofuscinosis (LINCL, CLN2) is a fatal neurodegenerative disorder that results from mutations in a gene encoding a lysosomal proteinase, known as CLN2 protease (CLN2p) or tripeptidyl peptidase I (TPP-I).
M A, Junaid, S S, Brooks, R K, Pullarkat
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Science, 2020
Gene Therapy Late infantile Batten disease (CLN2 disease), a pediatric progressive brain disorder, is currently treated by infusion of human recombinant tripeptidyl peptidase 1 (TPP1) into the cerebrospinal fluid every other week, which slows but does not halt progression of the disease. Sondhi et al. sought an alternative treatment using gene therapy.
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Gene Therapy Late infantile Batten disease (CLN2 disease), a pediatric progressive brain disorder, is currently treated by infusion of human recombinant tripeptidyl peptidase 1 (TPP1) into the cerebrospinal fluid every other week, which slows but does not halt progression of the disease. Sondhi et al. sought an alternative treatment using gene therapy.
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Mitochondrial abnormalities in CLN2 and CLN3 forms of batten disease
Molecular and Chemical Neuropathology, 1996The storage of subunit c of mitochondrial ATP synthase, other hydrophobic peptides, and autofluorescent pigment in both late infantile (CLN2) and juvenile (CLN3) neuronal ceroid lipofuscinosis, but not in infantile (CLN1), has raised the question of abnormal mitochondrial function.
G, Dawson +3 more
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Enzyme Replacement Therapy in CLN2-Associated Retinopathy
Klinische Monatsblätter für AugenheilkundeAbstractNeuronal ceroid lipofuscinoses, also known as Batten disease, are comprised of a group of genetically heterogenous neurodegenerative conditions, characterized by dementia, epilepsy, motor deterioration, and blindness. The underlying pathology is a dysregulation of lysosomal catabolic protein metabolism, resulting in an accumulation of ...
Claudia Priglinger +2 more
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CLN2 Disease: Current Understandings, Challenges, and Future Directions
Journal of Child NeurologyNeuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative condition that rapidly progresses with language regression, loss of ambulation, blindness, intractable seizures, and premature death in childhood. Enzyme replacement therapy has transformed the clinical trajectory of CLN2 disease, and early genetic testing is crucial ...
Maria Shock +3 more
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Localization of proteins that are coordinately expressed with Cln2 during the cell cycle
Yeast, 2004AbstractThe localization of proteins can give important clues about their function and help sort data from large‐scale proteomic screens. Forty‐five proteins were tagged with the GFP variant YFP. These proteins were chosen because they are encoded by genes that display strong cell cycle‐dependent expression that peaks in G1.
Bryan A, Sundin +4 more
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A CLN2 Gene Nonsense Mutation is Associated with Severe Caudate Atrophy and Dystonia in LINCL
Neuropediatrics, 2000Clinical features and results of the blood DNA analysis are reported of a child affected with a distinct phenotype of the late infantile form of neuronal ceroid-lipofuscinosis (LINCL). He was affected by microcephaly and hypotonia since the fourth month of life; acquisition of motor and language abilities was severely impaired, and a disorder of ...
Filippo M Santorelli +2 more
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LINCE project: A fast diagnosis of CLN2 disease
Molecular Genetics and Metabolism, 2020Pablo Crujeiras +4 more
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Possibilities for an early diagnosis of CLN2-disease
Molecular Genetics and Metabolism, 2016Simona Murko +5 more
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