Results 11 to 20 of about 2,448 (132)

Elevated tripeptidyl-peptidase 1 corrects multiple disease phenotypes in a mouse model of juvenile neuronal ceroid lipofuscinosis. [PDF]

Mol Ther Methods Clin Dev
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a neurodegenerative lysosomal storage disease caused by the loss of the endolysosomal transmembrane protein, CLN3. The main protein component of lysosomal storage material in JNCL is subunit c of mitochondrial ATP synthase (SCMAS), which is normally degraded within the lysosome by tripeptidyl-peptidase ...
Banach-Petrosky W, Larrimore KE, Sleat EH, Bazer A, Samuels B, Tan Y, Melton AC, Ichida JK, Logan TP, Lobel P, Sleat DE.   +10 more
europepmc   +4 more sources

Different molecular mechanisms involved in spontaneous and oxidative stress-induced mitochondrial fragmentation in tripeptidyl peptidase-1 (TPP-1)-deficient fibroblasts. [PDF]

Biosci Rep, 2013
NCLs (neuronal ceroid lipofuscinoses) form a group of eight inherited autosomal recessive diseases characterized by the intralysosomal accumulation of autofluorescent pigments, called ceroids. Recent data suggest that the pathogenesis of NCL is associated with the appearance of fragmented mitochondria with altered functions.
Van Beersel G, Tihon E, Demine S, Hamer I, Jadot M, Arnould T.   +5 more
europepmc   +5 more sources

Genetic modulation of apoptotic pathways fails to alter disease course in tripeptidyl-peptidase 1 deficient mice. [PDF]

Neurosci Lett, 2009
Late-infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal, incurable neurodegenerative disease of children caused by the loss of the lysosomal protein tripeptidyl-peptidase 1 (TPP1). Previous studies have suggested that Bcl-2-dependent apoptotic pathways are involved in neuronal cell death in LINCL patients and, as a result, anti-apoptotic ...
Kim KH, Sleat DE, Bernard O, Lobel P.
europepmc   +4 more sources

Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. [PDF]

J Biol Chem, 2009
Late infantile neuronal ceroid lipofuscinosis is a fatal childhood neurological disorder caused by a deficiency in the lysosomal protease tripeptidyl-peptidase 1 (TPP1). TPP1 represents the only known mammalian member of the S53 family of serine proteases, a group characterized by a subtilisin-like fold, a Ser-Glu-Asp catalytic triad, and an acidic pH ...
Guhaniyogi J, Sohar I, Das K, Stock AM, Lobel P.   +4 more
europepmc   +4 more sources

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 Journal
The 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, Soo Jung Park, Dongin Kim, Seokjin Han, Hee Jung Koo, Taeyong Kim, Min-Gi Shin, Eun Jeong Lee   +7 more
doaj   +2 more sources

Proteomics of serum extracellular vesicles identifies a novel COPD biomarker, fibulin-3 from elastic fibres

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, Yoshito Takeda, Ryohei Narumi, Takashi Shiromizu, Yosui Nojima, Mari Ito, Muneyoshi Kuroyama, Yu Futami, Takayuki Takimoto, Takanori Matsuki, Ryuya Edahiro, Satoshi Nojima, Yoshitomo Hayama, Kiyoharu Fukushima, Haruhiko Hirata, Shohei Koyama, Kota Iwahori, Izumi Nagatomo, Mayumi Suzuki, Yuya Shirai, Teruaki Murakami, Kaori Nakanishi, Takeshi Nakatani, Yasuhiko Suga, Kotaro Miyake, Takayuki Shiroyama, Hiroshi Kida, Takako Sasaki, Koji Ueda, Kenji Mizuguchi, Jun Adachi, Takeshi Tomonaga, Atsushi Kumanogoh   +32 more
doaj   +1 more source

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
doaj   +1 more source

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, Daniel Rodrigues, Maria José de Castro, Pablo Crujeiras, Pablo Crujeiras, Anna Duat-Rodriguez, Ana Victoria Marco, Mireia del Toro, María L. Couce, María L. Couce, Cristóbal Colón   +10 more
doaj   +1 more source

Brain transcriptome analysis of a CLN2 mouse model as a function of disease progression

Journal of Neuroinflammation, 2021
Background Neuronal ceroid lipofuscinoses, (NCLs or Batten disease) are a group of inherited, early onset, fatal neurodegenerative diseases associated with mutations in 13 genes.
Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Tatiana Gonzalez, Nancy B. Schwartz   +4 more
doaj   +1 more source

Astaxanthin Alleviates Foam Cell Formation and Promotes Cholesterol Efflux in Ox-LDL-Induced RAW264.7 Cells via CircTPP2/miR-3073b-5p/ABCA1 Pathway

Molecules, 2023
Atherosclerosis (AS) is a common cardiovascular disease and remains the leading cause of death in the world. It is generally believed that the deposition of foam cells in the arterial wall is the main cause of AS.
Zhexiao Zhang, Yunmei Qiu, Wanzhi Li, Anyang Tang, Hang Huang, Wanyi Yao, Huawen Li, Tangbin Zou   +7 more
doaj   +1 more source