Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy [PDF]
Life, 2021 We report on a 36-year-old man with cerebellar-extrapyramidal syndrome and severe heart failure because of dilated cardiomyopathy of unknown origin. Dysarthria and cardiac arrhythmia began at early childhood (4 years of age).
Agnieszka Ługowska +11 more
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A tripeptidyl peptidase 1 is a binding partner of the Golgi pH regulator (GPHR) in Dictyostelium [PDF]
Disease Models & Mechanisms, 2017 Mutations in tripeptidyl peptidase 1 (TPP1) have been associated with late infantile neuronal ceroid lipofuscinosis (NCL), a neurodegenerative disorder. TPP1 is a lysosomal serine protease, which removes tripeptides from the N-terminus of proteins and is
Maria Stumpf +8 more
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Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis. [PDF]
PLoS ONE, 2018 Late-infantile neuronal ceroid lipofuscinosis is a fatal neurodegenerative disease of children caused by mutations resulting in loss of activity of the lysosomal protease, tripeptidyl peptidase 1 (TPP1).
Yuliya Nemtsova +4 more
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Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy [PDF]
Neurobiology of Disease, 2019 The late-infantile Batten disease or late-infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive lysosomal storage disorder caused by mutations in the Cln2 gene leading to deficiency of lysosomal enzyme tripeptidyl peptidase 1 (TPP1).
Sudipta Chakrabarti +5 more
doaj +2 more sources
Different molecular mechanisms involved in spontaneous and oxidative stress-induced mitochondrial fragmentation in tripeptidyl peptidase-1 (TPP-1)-deficient fibroblasts [PDF]
Bioscience Reports, 2013 NCLs (neuronal ceroid lipofuscinoses) form a group of eight inherited autosomal recessive diseases characterized by the intralysosomal accumulation of autofluorescent pigments, called ceroids.
Guillaume Van Beersel +5 more
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Systematic discovery of disease-modifying targets by prediction from knowledge graph-based AI model and experimental validation: Parkinson’s disease case [PDF]
Computational and Structural Biotechnology JournalThe development of disease-modifying therapies (DMTs) for Parkinson’s disease (PD) remains a critical unmet need. Despite extensive research efforts, no therapy capable of slowing or halting PD progression has been approved.
Minyoung So +7 more
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Lysosomal enzyme tripeptidyl peptidase 1 destabilizes fibrillar Aβ by multiple endoproteolytic cleavages within the β-sheet domain [PDF]
Proceedings of the National Academy of Sciences of the United States of America, 2018 Ana Rojas +2 more
exaly +2 more sources
ERJ Open Research, 2021 There is an unmet need for novel biomarkers in the diagnosis of multifactorial COPD. We applied next-generation proteomics to serum extracellular vesicles (EVs) to discover novel COPD biomarkers.
Taro Koba +32 more
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Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina
Journal of Inborn Errors of Metabolism and Screening, 2022 Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CLN2/TPP1 gene, leading to a deficiency in tripeptidyl peptidase 1 activity.
Guillermo Guelbert, Norberto Guelbert
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The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, 2022 IntroductionNeuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders.
Daniel Rodrigues +10 more
doaj +1 more source