Results 71 to 80 of about 1,648 (159)
AAV‐mediated Gene Therapy for Hereditary Deafness: Progress and Perspectives
Advanced Science, Volume 11, Issue 47, December 18, 2024.Gene therapy has successfully restored hearing function in hereditary autosomal recessive deafness 9 (DFNB9) caused by the OTOFERLIN (OTOF) mutation, providing a translational paradigm for gene therapy in other forms of genetic deafness. In this work, a systematic overview of the current state of gene therapy for hereditary deafness, with particular ...
Liyan Zhang +14 more
wiley +1 more source
Interferon Stimulated Gene Expression Is a Biomarker for Primary Mitochondrial Disease
Annals of Neurology, Volume 96, Issue 6, Page 1185-1200, December 2024.Objective Mitochondria are implicated in regulation of the innate immune response. We hypothesized that abnormalities in interferon signaling may contribute to pathophysiology in patients with primary mitochondrial disease (PMD). Methods Expression of interferon stimulated genes (ISGs) was measured by real‐time polymerase chain reaction (PCR) in whole ...
Nandaki Keshavan +3 more
wiley +1 more source
Journal of Human ImmunityInterferonopathies are rare autoinflammatory disorders driven by a constitutive upregulation of the type I interferon (IFN-I) pathway, leading to chronic activation of this cytokine.
Leonardo Oliveira Mendonça +43 more
doaj +1 more source
Predictions for energy distribution and polarization of the positron from the polarized muon decay
, 2004 The pure lepton decay of the polarized muon is considered, accounting for a new tensor interaction which is outside of the Michel local interactions. This interaction leads to new energy distribution and polarization of the final charged lepton.
Chizhov, M. V.
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Phenotypic Characterization of PNPase Mutation and Overexpression in C. elegans [PDF]
, 2019 PNPase, polynucleotide phosphorylase, is a multifunctional exoribonuclease protein with 3` terminal oligonucleotide polymerase activity. Coded by the PNPT1 gene, the protein is associated with mitochondrial homeostasis and functions as a possible target ...
Hur, Brian J
core +1 more source
Papel de la enzima PNPasa en el transporte de ARNmt en linfoma. (Revisión bibliográfica) [PDF]
, 2020 El linfoma es el tipo de cáncer de sangre más común en la actualidad y, como su nombre indica, comienza en el sistema linfático. El origen de esta enfermedad está relacionado con defectos mitocondriales, generados por mutaciones en la enzima PNPasa
Lizanda Piqueras, Myriam
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Little is known about how human genetic variation affects the responses to environmental stimuli in the context of complex diseases. Experimental and computational approaches were applied to determine the effects of genetic variation on the induction of ...
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EF-hand protein Ca²⁺ buffers regulate Ca²⁺ influx and exocytosis in sensory hair cells [PDF]
, 2015 EF-hand Ca²⁺-binding proteins are thought to shape the spatiotemporal properties of cellular Ca²⁺ signaling and are prominently expressed in sensory hair cells in the ear.
Gabrielaitis, Mantas +6 more
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