Results 61 to 70 of about 4,795 (186)

Differential expression of TPP1 in amyotrophic lateral sclerosis.

, 2022
Neurodegenerative diseases that affect the motor neurons, including amyotrophic lateral sclerosis (ALS), have little treatment options and are generally rapidly fatal (1, 2).
Shahan Mamoor
core   +1 more source

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Nonsense-Mutationen des TPP1-Gens bei cLINCL: Potential der Readthrough-Therapie [PDF]

, 2021
Die Tripeptidylpeptidase 1 (TPP1) ist eine lysosomale Serinprotease, die Tripeptide am N-Terminus von Polypeptiden abspaltet und somit an deren Abbau beteiligt ist. TPP1 wird als inaktives Proenzym synthetisiert und hat als solches eine Molekülmasse von
Kramer, Vivian
core   +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

Shelterin TPP1 Promotes Hair Regeneration Through Activating Bulge Hair Follicle Stem Cells

Aging Cell, Volume 25, Issue 9, September 2026.
Elongation of telomeres by increasing TPP1, through genetic and pharmacological approaches, promotes hair follicle bulge stem cell mobilization and migration, leading to accelerated telogen‐to‐anagen transition and hair regeneration. This work identifies TPP1 as a master regulator and therapeutic target for alopecia. ABSTRACT Telomere shortening drives
Lihui Wang, Bihan Zhao, Jiahui Yang, Ying Liang, Yitian Yao, Xiao Xiao, Long Yang, Jinghao Xia, Haoze Li, Ling Gao, Jun Zhang, Tianci Su, Hao Xu, Jiacheng Zhang, Hongyan Wang, Jun Liu, Xiaojing Hong, Jun‐Ping Liu   +17 more
wiley   +1 more source

CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension

Nucleic Acids Research, 2023
Abstract CST (CTC1-STN1-TEN1) is a telomere associated complex that binds ssDNA and is required for multiple steps in telomere replication, including termination of G-strand extension by telomerase and synthesis of the complementary C-strand.
Huan Wang, Tengfei Ma, Xiaotong Zhang, Wei Chen, Yina Lan, Guotao Kuang, Shih-Jui Hsu, Zibin He, Yuxi Chen, Jason Stewart, Anukana Bhattacharjee, Zhenhua Luo, Carolyn Price, Xuyang Feng   +13 more
openaire   +2 more sources

Twisting the End Game: How Telomere Chromatin Modifications Shape Telomere Maintenance

Aging Cell, Volume 25, Issue 9, September 2026.
Chromatin modifications on telomeres are linked to the mode of telomere DNA replication. A coupled feedforward loop model is proposed based on these to lock the ALT cancer cells in this alternative mode of telomere replication. ABSTRACT Cell division inevitably shortens telomeric DNA owing to the end‐replication problem.
Jie Wang, Yuehui Su, Chao Chen, Yueying Li, Jiajia Han, Liping Du, Liyun Zheng, Ya‐Long Dang, Ying Peng   +8 more
wiley   +1 more source

G‐Quadruplexes: Structural Diversity and Emerging Roles in Biomolecular Condensation

Advanced Science, Volume 13, Issue 45, 13 August 2026.
G‐quadruplexes (G4s) fold into diverse intra‐ and intermolecular structures, positioning them as emerging regulators of biomolecular condensation. Mechanistically, G4s autonomously form condensates, act as structural platforms to initiate and stimulate condensation, or induce phase transitions.
Wenmeng Wang, Qingqing Xu, Yuxin Zhang, Fang Liu, Guangchao Sui, Dangdang Li   +5 more
wiley   +1 more source

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity [PDF]

Nature, 2012
Human chromosome ends are capped by shelterin, a protein complex that protects the natural ends from being recognized as sites of DNA damage and also regulates the telomere-replicating enzyme, telomerase. Shelterin includes the heterodimeric POT1-TPP1 protein, which binds the telomeric single-stranded DNA tail.
Nandakumar, Jayakrishnan, Bell, Caitlin F., Weidenfeld, Ina, Zaug, Arthur J., Leinwand, Leslie A., Cech, Thomas R.   +5 more
openaire   +2 more sources

Abnormal mRNA Expression Levels of Telomere-Binding Proteins Represent Biomarkers in Myelodysplastic Syndromes: A Case-Control Study

Turkish Journal of Hematology, 2017
Objective: As evidence was shown that abnormal shortening of telomeres begins to accumulate in myelodysplastic syndrome (MDS) patients, this study was conducted to determine the relationship between the mRNA expression levels of telomere-binding proteins
Baoshan Liu, Rongdi Yan, Jie Zhang, Bin Wang, Hu Sun, Xing Cui   +5 more
doaj   +1 more source