Results 51 to 60 of about 4,429 (159)
Plasma Proteome Profiling of Centenarian Across Switzerland Reveals Key Youth‐Associated Proteins
Aging Cell, Volume 25, Issue 2, February 2026.We characterized the plasma proteomic profiles of centenarians from the SWISS100 cohort, identifying 583 differentially expressed proteins compared to younger and geriatric groups. Cross‐validation with the independent datasets NECS and the TAME consortium confirmed a robust aging signature, while fractional polynomial regressions revealed a specific ...
Flavien Delhaes +8 more
wiley +1 more source
Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model [PDF]
ASN Neuro, 2019 In humans, homozygous mutations in the TPP1 gene results in loss of tripeptidyl peptidase 1 (TPP1) enzymatic activity, leading to late infantile neuronal ceroid lipofuscinoses disease. Using a mouse model that targets the Tpp1 gene and recapitulates the pathology and clinical features of the human disease, we analyzed end-stage (4 months ...
Miriam S. Domowicz +7 more
openaire +2 more sources
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain +2 more
wiley +1 more source
POT1–TPP1 Binding and Unfolding of Telomere DNA Discriminates against Structural Polymorphism [PDF]
Journal of Molecular Biology, 2016 Telomeres are nucleoprotein complexes that reside at the ends of linear chromosomes and help maintain genomic integrity. Protection of telomeres 1 (POT1) and TPP1 are telomere-specific proteins that bind as a heterodimer to single-stranded telomere DNA to prevent illicit DNA damage responses and to enhance telomerase-mediated telomere extension ...
Michael R, Mullins +6 more
openaire +2 more sources
In vitro stability of TPP1 preparations in tissue extracts.
, 2012 Activated TPP1 was mixed with either brain or liver extracts (20 and 10 mg tissue wet weight/mL, respectively) from Tpp1(−/−) mice (final concentration 0.06 mg/mL TPP1, 90% tissue extracts in 150 mM sodium chloride, 100 mM sodium acetate pH 4.5, 0.1 ...
Istvan Sohar (152558) +4 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen +3 more
wiley +1 more source
Biodistribution of TPP1 preparations 24 hours following IV administration.
, 2012 *Only 82% of the oxidized proTPP1 could be autocatalytically converted to active enzyme. The dose represents total proenzyme based on concentration as determined by absorbance measurements, while % of injected activity recovered from all tissues analyzed
Istvan Sohar (152558) +4 more
core +1 more source
BioMed Research International, Volume 2026, Issue 1, 2026.Background Type 2 diabetes mellitus (T2DM), Alzheimer′s disease (AD), and hypertension (HTN) tend to be comorbidities and mutually influence each other; however, the mechanisms underlying their association remain unclear. This study was aimed at identifying genes associated with susceptibility to these three diseases and their mechanisms of action ...
Siwei Tian +8 more
wiley +1 more source
Linker sequences affect lysosomal targeting of TPP1 fusion proteins.
, 2014 A) U2OS cells were transiently transfected with indicated fusion constructs. Linker sequences are as described in Fig. 3 legend. Endocytosed Alexa488-NPC2 is used as a lysosomal standard. The scale bar (white) in the bottom right corner represents 20 µm.
Ling Huang (51752) +4 more
core +1 more source
Case Reports in Immunology, Volume 2026, Issue 1, 2026.Introduction The case report describes a novel finding of a homozygous variant in the coronin 1A (CORO1A) gene, associated with atypical severe combined immunodeficiency (SCID) in a 9‐year‐old female patient with recurrent infections and unique immunological features, including periodic T‐cell lymphocytosis and T‐ and B‐cell lymphopenia.
Alanoud Aljohani +6 more
wiley +1 more source