A gene sequence of recombinant human type II mitochondrial dynein-like GTPase having a nucleotide sequence shown in SEQ ID NO.: 1 and uses thereof. A fusion nucleic acid comprising a nucleic acid encoding human type II mitochondrial dynein-like GTPase. A recombinant expression vector comprising the nucleic acid or a fusion nucleic acid. A transformant by which the nucleic acid or the fusion nucleic acid is introduced into a host. A non-human mammalian ADOA model based on the inactivation of the gene of type II mitochondrial dynein-like GTPase, which can effectively improve the pathological manifestations of ADOA using a recombinant expression vector encoding the human type II mitochondrial dynein-like GTPase. The expression level of the nucleic acid encoding the human type II mitochondrial dynein-like GTPase is higher, therefore, more human type II mitochondrial dynein-like GTPase can be obtained in the mitochondria, which can better treat eye diseases such as ADOA.

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.

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 anchor overexpression of Dynamin 2.

The present invention concerns the use of antisense oligonucleotides (AON) capable of inhibiting expression of dynamin 2, advantageously human dynamin 2, for use in the treatment of Charcot-Marie-Tooth disease (CMT) and centronuclear myopathies (CNM).

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).

An isolated or purified antisense oligomer for modulating mRNA translation of the OPAL gene transcript or part thereof which has a modified backbone structure and sequences with at least 75% sequence identity to the isolated or purified antisense oligomer.

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.

The present disclosure relates to an inhibitor of Dynamin 2 for use in the treatment of centronuclear myopathies. The present disclosure relates to pharmaceutical compositions containing Dynamin 2 inhibitor and to their use for the treatment of centronuclear myopathies. It also deals with a method for identifying or screening molecules useful in the treatment of a centronuclear myopathy.

The present disclosure relates to an inhibitor of Dynamin 2 for use in the treatment of centronuclear myopathies. The present disclosure relates to pharmaceutical compositions containing Dynamin 2 inhibitor and to their use for the treatment of centronuclear myopathies. It also deals with a method for identifying or screening molecules useful in the treatment of a centronuclear myopathy.

Alternative splicing events in genes can lead to non-productive mRNA transcripts which in turn can lead to aberrant protein expression, and therapeutic agents which can target the alternative splicing events in genes can modulate the expression level of functional proteins in patients and/or inhibit aberrant protein expression. Such therapeutic agents can be used to treat a condition or disease caused by protein deficiency and/or mitochondrial function deficit.