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   Articles with "cln2" as a keyword



Karyopherin Msn5 is involved in a novel mechanism controlling the cellular level of cell cycle regulators Cln2 and Swi5

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recommendations! Published in 2019 at "Cell Cycle"

DOI: 10.1080/15384101.2019.1578148

Abstract: ABSTRACT The yeast β-karyopherin Msn5 controls the SBF cell-cycle transcription factor, responsible for the periodic expression of CLN2 cyclin gene at G1/S, and the nuclear export of Cln2 protein. Here we show that Msn5 regulates… read more here.

Keywords: cln2 swi5; cell cycle; level; cln2 ... See more keywords

Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.

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recommendations! Published in 2021 at "F1000Research"

DOI: 10.12688/f1000research.54556.1

Abstract: Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA. The… read more here.

Keywords: therapy; cln2; treatment; nfl ... See more keywords

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment

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recommendations! Published in 2022 at "F1000Research"

DOI: 10.12688/f1000research.54556.2

Abstract: Classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is caused by a deficiency of tripeptidyl-peptidase-1. In 2017, the first CLN2 enzyme replacement therapy (ERT) cerliponase alfa (Brineura) was approved by the FDA and EMA. The… read more here.

Keywords: nfl; therapy; cln2 disease; treatment ... See more keywords

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics

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recommendations! Published in 2025 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms26115037

Abstract: CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an ultra-rare lysosomal storage disorder caused by mutations in the TPP1/CLN2 gene, resulting in impaired tripeptidyl peptidase 1 (TPP1) activity. The timely initiation of enzyme replacement therapy… read more here.

Keywords: tpp1 mutation; cln2; tpp1; mutation detection ... See more keywords