A new way of understanding Alzheimer’s disease, based on biological inflection points that mark decisive moments in the progression of the disorder, could change how new drugs are developed to achieve more effective therapies. This new perspective could rethink strategies that depend not so much on the target itself, but on the precise moment at which it is addressed.

Researchers from the China Pharmaceutical University and Guangdong Pharmaceutical University (China) have unveiled the crucial role of the alternative splicing of E2A in myogenic progression and demonstrated that PTBP1, by controlling E2A alternative splicing, is a critical regulator of myogenesis.

A new way of understanding Alzheimer’s disease, based on biological inflection points that mark decisive moments in the progression of the disorder, could change how new drugs are developed to achieve more effective therapies. This new perspective could rethink strategies that depend not so much on the target itself, but on the precise moment at which it is addressed.

Exon skipping therapies based on antisense phosphorodiamidate morpholino oligomer (PMO) have great potential to restore dystrophin in the skeletal muscle and treat Duchenne muscular dystrophy (DMD). Entrada Therapeutics Inc. has developed an endosomal escape vehicle conjugated to DMD exon skipping PMOs (exon 51 skipping), ENTR-601-51, for the potential treatment of DMD.

Neurodegenerative disease and cognitive decline cannot be explained by a single process. Beta-amyloid plaques, hyperphosphorylated tau, alpha-synuclein, activated microglia and astrocytes, altered receptors such as TREM2, mitochondrial dysfunction, epigenetic changes and cerebrovascular alterations all seem to contribute to the development of dementia in Alzheimer’s disease (AD). While scientists attempt to address each of these elements, prevention is growing as a primary goal.

Facioscapulohumeral muscular dystrophy (FSHD) is a muscle wasting disease caused by aberrant expression of double homeobox protein 4 (DUX4). When DUX4 is activated in skeletal muscle, it triggers myocyte cell death after several transcriptional changes, thus genetic DUX4 silencing arises as a promising approach for treating FHSD.

Entering a cell and watching its entire inner machinery at work, how DNA is copied, how proteins are assembled, or how it splits in two, has been, for decades, an impossible dream. Now, scientists at the University of Illinois have recreated everything that happens inside a cell at molecular scale in an unprecedented computational model. Syn3A is the first 4D digital cell, capable of combining time and space to simultaneously represent all the internal processes that drive the life cycle of a minimal prokaryotic organism.

Researchers from Chemicare Srl and the University of Piemonte Orientale have presented preclinical results regarding their (SOCE) negative regulator CIC-39. Researchers evaluated the dysregulation of SOCE in both ex vivo and in vivo models of Duchenne muscular dystrophy (DMD), as well as evaluated the therapeutic potential of CIC-39 in DMD.

GM1 gangliosidosis is a lysosomal storage disease caused by mutations in the human GLB1 gene, encoding the ubiquitous lysosomal β-galactosidase. GM1 causes a rapidly progressing neurodegeneration, which can be lethal in the first 2 years of life in the most severe cases.