Results 81 to 90 of about 4,429 (159)

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease [PDF]

, 2019
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition caused by variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase I (TPP1). We update on the spectrum of TPP1 variants
Miller, N, Bailey, M, Aristorena, M, Gardner, E, Mole, SE, Schulz, A   +5 more
core  

Antibiotic treatment reveals the contributions of the gut microbiome to CLN2 disease in the central and enteric nervous system. [PDF]

Sci Rep
Ziółkowska EA, Nix P, Olszowy B, Williams LL, Eultgen EM, Nowacka A, Celorrio M, Friess SH, Heuckeroth RO, Cooper JD.   +9 more
europepmc   +1 more source

Single-Cell and Multi-Omics-Based Characterization of Gastric Cancer Identifies TPP1 as a Potential Target for Gastric Cancer Progression and Treatment. [PDF]

Oncol Res
Zhao Y, Ma J, Huang R, Pan S.
europepmc   +1 more source

Shelterin Component TPP1 Drives Tumor Progression and Predicts Poor Prognosis in Hepatocellular Carcinoma. [PDF]

Biomedicines
Jang JE, Kim HS, Kim JS, Han JM, Cho HS, Tak KY, Han JW, Sung PS, Bae SH, Jang JW.   +9 more
europepmc   +1 more source

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
europepmc   +1 more source

Whole exome sequencing identified two novel mutations of <i>ACD</i> in Chinese patients with idiopathic pulmonary fibrosis. [PDF]

Front Cell Dev Biol
Cao GH, Yang H, Wang Q, Luo H, Fan LL, Liu L.   +5 more
europepmc   +1 more source

Control of telomerase recruitment and end protection by independent shelterin components. [PDF]

Nat Commun
Sandhu R, Tricola GM, Lee SY, Tran A, Lazzerini Denchi E.   +4 more
europepmc   +1 more source

Systematic discovery of disease-modifying targets by prediction from knowledge graph-based AI model and experimental validation: Parkinson's disease case. [PDF]

Comput Struct Biotechnol J
So M, Park SJ, Kim D, Han S, Koo HJ, Kim T, Shin MG, Lee EJ.   +7 more
europepmc   +1 more source

A SlERF4-SlTPP1 module enhances drought tolerance in tomato by increasing the root/shoot ratio. [PDF]

Hortic Res
Wang H, Chai L, Yu H, Li H, Yi D, Ikram S, Lu T, Li Y, Yang X, Jiang W, Li Q.   +10 more
europepmc   +1 more source

Telomere-protecting protein 1 promotes gastric cancer cell metastasis via enhancing endoplasmic reticulum stress. [PDF]

J Biol Chem
Gui Z, Qian L, Gao L, Feng Z, Nie X, Xuan Z, Guo W, Zhang S, Zhang K, Xu Y, Zhao W.   +10 more
europepmc   +1 more source