Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity
ranging from progressive infantile paralysis and premature death (type I) to limited motor …

Hypoxia-induced alternative splicing is a potent driving force in tumour pathogenesis and
progression. In this review, we update currents concepts of hypoxia-induced alternative …

Neurodegeneration is the primary driver of disease progression in multiple sclerosis (MS)
resulting in permanent disability, creating an urgent need to discover its underlying …

Background Mounting evidence suggests that one of the ways that cells adapt to hypoxia is
through alternative splicing. The aim of this study was firstly to examine the effect of hypoxia …

Both complex disorders and monogenetic diseases are often modulated in their phenotype
by further genetic, epigenetic or extrinsic factors. This gives rise to extensive phenotypic …

Objective Spinal muscular atrophy (SMA) is a major inherited cause of infant death
worldwide. It results from mutations in a single, ubiquitously expressed gene (SMN1), with …

Ubiquitous deficiency in the survival motor neuron (SMN) protein causes death of motor
neurons—a hallmark of the neurodegenerative disease spinal muscular atrophy (SMA) …

Heterogeneous nuclear ribonucleoproteins (hnRNPs) are a family of conserved nuclear
proteins that associate with nascent RNA polymerase II transcripts to yield hnRNP particles …

Spinal muscular atrophy (SMA) is one of the major genetic disorders associated with infant
mortality. More than 90% of cases of SMA result from deletions of or mutations in the …

Reduced expression of the survival motor neuron (SMN) protein causes the
neurodegenerative disease spinal muscular atrophy (SMA). Here, we show that adeno …