Results 71 to 80 of about 4,795 (186)
Molecular Interplay of PARN and Telomerase: Tail Modifiers and Disease Implications
WIREs RNA, Volume 17, Issue 4, July/August 2026.Schematic representation of the molecular interplay between PARN, telomerase‐associated, and the involvement of p53 in regulating telomere maintenance and genome stability. The top panel shows how normal PARN levels are involved in regulating p53 levels and balanced telomerase activity through their regulatory interaction with TERC and TERRA, thus ...
Sujitha Felicitus +5 more
wiley +1 more source
Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy
Therapeutics and Clinical Risk Management, 2020 Nicola Specchio, Nicola Pietrafusa, Marina Trivisano Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, ItalyCorrespondence: Nicola SpecchioDepartment of Neuroscience, Bambino Ges ...
Specchio N, Pietrafusa N, Trivisano M
doaj
Recurrent TPP1 Promoter Mutations Drive Telomere Maintenance in Melanoma
, 2023 Limitless replicative potential is a defining hallmark of cancer. Somatic cells are limited in their replicative potential by telomere shortening. Telomeres are caps on the ends of chromosomes that shorten as cells divide.
Chun-on, Pattra
core
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 +1 more source
A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2)
Journal of Inborn Errors of Metabolism and Screening, 2020 Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders.
Andrea Nunes +7 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 +4 more
doaj +1 more source
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
doaj +1 more source
Plant Biotechnology Journal, Volume 24, Issue 6, Page 3969-3988, June 2026.ABSTRACT Natural antisense transcripts (NATs) correspond to nearly 60% of annotated rice loci, however their functions are largely unknown. In this study, we characterise a rice cis‐NAT (NAT1850) that completely overlaps with a rice‐specific primary miRNA, pri‐miR1850.
Yang Shen +11 more
wiley +1 more source
Global Brain Transcriptome Analysis of a Neuronal Ceroid Lipofuscinoses Mouse Model
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.
Miriam S. Domowicz +7 more
doaj +1 more source
PLoS ONE, 2020 BackgroundThere is a need for a rapid diagnostic point of care test to detect Neisseria gonorrhoeae (NG) infection to prevent incorrect, lack or excess of treatment resulting from current syndromic management in low-resource settings.
Cecilia Ferreyra +10 more
doaj +1 more source