The invention relates to an allele specific siRNA able to silence the expression of only one allele of a heterozygous DNM2 gene, for treating diseases caused by heterozygous mutation and/or overexpression of Dynamin 2.

The invention relates to an allele specific siRNA able to silence the expression of only one allele of a heterozygous DNM2 gene, for treating diseases caused by heterozygous mutation and/or overexpression of Dynamin 2.

The diagnosis of a neurodegenerative disease or the response of a patient with a neurodegenerative disease to therapy, in a clinical trial setting or in a long-term disease management setting, is assessed.

RNA interference-based methods and products for inhibiting the expression of pathogenic dynamin-1 variants are provided. Delivery vehicles such as recombinant adeno-associated viruses deliver DNAs encoding RNAs that inhibit the expression of the dynamin-1 variants. The methods treat, for example, developmental and epileptic encephalopathies.

An allele specific siRNA able to silence the expression of only one allele of a heterozygous DNM2 gene is provided. The siRNA is useful for treating diseases caused by heterozygous mutation and/or overexpression of Dynamin 2.

Provided herein are recombinant AAV vectors, AAV viral vectors, capsid proteins, and administration methods for improved gene therapy, and methods for their manufacture and use.

The present invention is related to the field of protein chemistry. In particular, mixed buffer compositions are formulated that allow an accurate identification of agent-induced changes in protein melting point temperatures. Such buffer compositions provide for methods that determine the specific effects of exogenous agents on protein stability, cryoprotective effects and/or protein quality control (e.g., synthesis and/or extraction purity validations).

The present disclosure relates to an inhibitor of Dynamin 2 or composition comprising the same for use in the treatment of Duchenne's muscular dystrophy.

Agents that target a processed mRNA, e.g., the 5 UTR of the processed mRNA, can modulate protein expression, e.g., via modulation of translation of the processed mRNA. Alternative splicing events in genes can lead to non-productive mRNA transcripts which in turn can lead to aberrant protein expression. Agents that target the alternative splicing events in genes can modulate the expression level of proteins. Therapeutic agents, which can modulate protein expression by targeting a processed mRNA and/or alternative splicing events, can promote functional protein expression in patients and/or inhibit aberrant protein expression. Such therapeutic agents can be used to treat a condition or disease associated with protein deficiency and/or mitochondrial function deficit.

The present invention relates to functional nucleic acid molecules for use in upregulating OPA1 expression. The functional nucleic acid molecules typically comprise at least one target binding sequence reverse complementary to an OPA1 mRNA sequence and at least one regulatory sequence which comprises a SINE B2 element or an internal ribosome entry site (IRES) sequence. Also described are therapeutic methods of using the functional nucleic acids.