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Advanced Search Results For "CLN2"

1 - 10 of 61 results for
 "CLN2"
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Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2

Publication Type: Academic Journal

Source(s): Frontiers in Genetics, Vol 13 (2022)

Abstract: Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive neurodegenerative disease caused by variants in the TPP1 gene that lead to the deficiency of the lysosomal enzyme tripeptidyl peptidase I (TPP1) activity. Herein, we report a rare c...

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S. cerevisiae Cells Can Grow without the Pds5 Cohesin Subunit

Publication Type: Academic Journal

Source(s): mBio, Vol 13, Iss 4 (2022)

Abstract: ABSTRACT During DNA replication, the newly created sister chromatids are held together until their separation at anaphase. The cohesin complex is in charge of creating and maintaining sister chromatid cohesion (SCC) in all eukaryotes. In Saccharomyces ...

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Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

Publication Type: Academic Journal

Source(s): Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)

Abstract: Abstract Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA). It is administered every 2 weeks via an intracerebroventri...

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Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update

Publication Type: Academic Journal

Source(s): Journal of Clinical Medicine, Vol 11, Iss 6415, p 6415 (2022)

Abstract: Neuronal ceroid lipofuscinoses type 2 (CLN2), the most common form of Batten disease, is caused by TPP1 loss of function, resulting in tripeptidyl peptidase-1 enzyme deficiency and cerebral accumulation of lipopigments. Clinical hallmarks include epile...

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Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials

Publication Type: Academic Journal

Source(s): Frontiers in Neurology, Vol 13 (2022)

Abstract: Conducting clinical trials in rare diseases is challenging. In trials that aim to use natural history control cohorts for evaluation of efficacy, lack of data on natural history of disease prolongs development of future therapies significantly. Therefo...

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Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

Publication Type: Academic Journal

Source(s): Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

Abstract: Abstract Background Utility studies enable preference-based quantification of a disease’s impact on patients’ health-related quality of life (HRQoL). It is often difficult to obtain utility values for rare, neurodegenerative conditions due to cognitive...

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Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa

Publication Type: Academic Journal

Source(s): Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Abstract: Abstract Background Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponase alfa is now available...

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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Publication Type: Academic Journal

Source(s): Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-19 (2021)

Abstract: Abstract Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity ...

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Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Publication Type: Academic Journal

Source(s): Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-9 (2020)

Abstract: Abstract Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic...

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Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease

Publication Type: Academic Journal

Source(s): Stem Cell Research, Vol 53, Iss , Pp 102323- (2021)

Abstract: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive neurodegenerative disorder generally with onset at 2 to 4 years of age and characterized by seizures, loss of vision, progressive motor and mental decline, and premature dea...

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