Results 91 to 100 of about 606,407 (214)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini +12 more
wiley +1 more source
Haematologica, 2008 Mutations of UNC13D have been described in patients affected by familial hemophagocytic lymphohistiocytosis (FHL3). The Munc13-4 protein contributes to the priming of the secretory granules.
Alessandra Santoro +8 more
doaj +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
The splicing factor proline-glutamine rich (SFPQ/PSF) is involved in influenza virus transcription. [PDF]
, 2011 The influenza A virus RNA polymerase is a heterotrimeric complex responsible for viral genome transcription and replication in the nucleus of infected cells. We recently carried out a proteomic analysis of purified polymerase expressed in human cells and
Juan Ortín +15 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang +13 more
wiley +1 more source
The Scientific World Journal, 2014 Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. SMN1 gene encodes the SMN protein which plays a key role in spliceosome assembly. Although human patients contain SMN2, a duplicate of
Sunghee Cho +9 more
doaj +1 more source
Calculation of Splicing Potential from the Alternative Splicing Mutation Database [PDF]
, 2008 Background The Alternative Splicing Mutation Database (ASMD) presents a collection of all known mutations inside human exons which affect splicing enhancers and silencers and cause changes in the alternative splicing pattern of the corresponding genes ...
Afonin Kirill A +23 more
core +1 more source
Longitudinal Morphomolecular Monitoring of Head and Neck Carcinogenesis
Advanced Science, EarlyView.A miniaturized endoscopic probe that integrates Raman spectroscopy and optical coherence tomography, enabling simultaneous molecular and structural imaging of living tissue, was developed. Applied longitudinally in a mouse model of head and neck cancer, the system tracks disease progression from precancerous lesions to invasive cancer.
Jianrong Qiu +7 more
wiley +1 more source
Advanced Science, EarlyView.Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong +24 more
wiley +1 more source
Functional coordination of alternative splicing in the mammalian central nervous system [PDF]
, 2007 BACKGROUND: Alternative splicing (AS) functions to expand proteomic complexity and plays numerous important roles in gene regulation. However, the extent to which AS coordinates functions in a cell and tissue type specific manner is not known.
Saltzman, A.L. +32 more
core +1 more source