Bioblast Pharma

Hope should not be rare

Clinical publications

Clinical Publications

Demonstrating that hope is on its way

Publications on OPMD
Disease info and trehalose proof of concept

Oculopharyngeal muscular dystrophy – a polyalanine myopathy:

Click here

Animal models in therapeutic drug discovery for oculopharyngeal muscular dystrophy:

Click here

Oculopharyngeal muscular dystrophy: Recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies:

Click here

Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy:

Click here

Publications on SCA3
Disease info and trehalose proof of concept

Toward understanding Machado-Joseph disease:

Click here

Aggregate-prone proteins are cleared from the cytosol by autophagy: therapeutic implications:

Click here

Machado-Joseph Disease: from first descriptions to new perspectives:

Click here

SCA3: neurological features, pathogenesis and animal models:

Click here

Spinocerebellar Ataxia Type 3—Gene reviews:

Click here

Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies:

Click here

Publications on trehalose
General information on mechanism of action

Stimulation of autophagy reduces neurodegeneration in a mouse model of human tauopathy.

Click here

Why is trehalose an exceptional protein stabilizer? An analysis of the thermal stability of proteins in the presence of the compatible osmolyte trehalose.

Click here

Trehalose inhibits fibrillation of A53T mutant alpha-synuclein and disaggregates existing fibrils.

Click here

Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein.

Click here

Chemical inducers of autophagy that enhance the clearance of mutant proteins in neurodegenerative diseases.

Click here

Other Publications

Spinobulbar muscular atrophy (SBMA)—disease info and trehalose proof of concept

Current status of treatment of spinal and bulbar muscular atrophy.

Click here

Autophagy and access: understanding the role of androgen receptor subcellular localization in SBMA.

Click here

Clearance of the mutant androgen receptor in motoneuronal models of spinal and bulbar muscular atrophy.

Click here

Spinal muscular atrophy—role of read-through approach

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels.

Click here

Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy.

Click here

Delivery of therapeutic agents through intracerebroventricular (ICV) and intravenous (IV) injection in mice.

Click here

Mitochondrial protein replacement therapy platform information and proof of concept

Successful TAT-mediated enzyme replacement therapy in a mouse model of mitochondrial E3 deficiency.

Click here

TAT opens the door.

Click here

Friedreich’s ataxia—disease info

Friedreich’s ataxia: past, present and future.

Click here