Research

 Cabaletta

 General information on Trehalose mechanism of action:

1. Stimulation of autophagy reduces neurodegeneration in a mouse model of human tauopathy.
 http://www.ncbi.nlm.nih.gov/pubmed/22689910

2. Trehalose: current use and future applications.
 http://www.ncbi.nlm.nih.gov/pubmed/21337544

3. Why is trehalose an exceptional protein stabilizer? An analysis of the thermal stability of proteins in the presence of the compatible osmolyte trehalose.
 http://www.ncbi.nlm.nih.gov/pubmed/12702728\

4. Trehalose inhibits fibrillation of A53T mutant alpha-synuclein and disaggregates existing fibrils.
 http://www.ncbi.nlm.nih.gov/pubmed/22575388

5. Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein.
 http://www.ncbi.nlm.nih.gov/pubmed/17182613

6. Chemical Inducers of Autophagy That Enhance the Clearance of Mutant Proteins in Neurodegenerative Diseases.
 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2856980

 

 Trehalose pharmacokinetics and safety:

1. Trehalose: a review of properties, history of use and human tolerance, and results of multiple safety studies.
 http://www.ncbi.nlm.nih.gov/pubmed/12065209

2. Trehalose full safety dossier and approval UK
 http://acnfp.food.gov.uk/assess/fullapplics/trehalose

3. Trehalose full safety dossier World Health Organization: WHO.
 http://www.inchem.org/documents/jecfa/jecmono/v46je05.htm

4. FDA GRAS notification Trehalose.
 

 

 OPMD- disease info and Trehalose proof of concept

1. Oculopharyngeal muscular dystrophy: a polyalanine myopathy.
 http://www.ncbi.nlm.nih.gov/pubmed/19080757

2. Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice.
 http://www.ncbi.nlm.nih.gov/pubmed/15864313

3. Animal models in therapeutic drug discovery for oculopharyngeal muscular dystrophy.
 http://www.ncbi.nlm.nih.gov/pubmed/24050237

4. Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy.
 http://www.ncbi.nlm.nih.gov/pubmed/14729833

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

6. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy.
 http://www.ncbi.nlm.nih.gov/pubmed/16311254

 

 Spinocerebellar Ataxia type 3 (SCA3)-disease info and Trehalose proof of concept.

1. Toward understanding Machado-Joseph disease.
 http://www.ncbi.nlm.nih.gov/pubmed/22133674

2. Aggregate-prone proteins are cleared from the cytosol by autophagy: therapeutic implications.
 http://www.ncbi.nlm.nih.gov/pubmed/17118264

3. Machado-Joseph Disease: from first descriptions to new perspectives.
 http://www.ojrd.com/content/6/1/35

4. SCA3: neurological features, pathogenesis and animal models.
 http://www.ncbi.nlm.nih.gov/pubmed/18418689

5. Spinocerebellar Ataxia Type 3- Gene review.
 http://www.ncbi.nlm.nih.gov/books/NBK1196

6. Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies.
 http://www.ncbi.nlm.nih.gov/pubmed/18418676

 

 Spinobulbar Muscular Atrophy (SBMA)- disease info and trehalose proof of concept

1. Current status of treatment of spinal and bulbar muscular atrophy.
 http://www.ncbi.nlm.nih.gov/pubmed/22720173

2. Autophagy and access: understanding the role of androgen receptor subcellular localization in SBMA.
 http://www.ncbi.nlm.nih.gov/pubmed/19770590

3. Clearance of the mutant androgen receptor in motoneuronal models of spinal and bulbar muscular atrophy.
 http://www.ncbi.nlm.nih.gov/pubmed/23810450

 

 Spinal Muscular Atrophy – role of read through approach

1. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels.
 http://www.ncbi.nlm.nih.gov/pubmed/15790598

2. Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy.
 http://www.ncbi.nlm.nih.gov/pubmed/22819971

3. Delivery of therapeutic agents through intracerebroventricular (ICV) and intravenous (IV) injection in mice.
 http://www.ncbi.nlm.nih.gov/pubmed/21988897

 

 Mitochondrial protein replacement therapy Platform information and proof of concept:

1. Successful TAT-mediated enzyme replacement therapy in a mouse model of mitochondrial E3 deficiency.
 http://www.ncbi.nlm.nih.gov/pubmed/21079907

2. TAT opens the door.
 http://www.ncbi.nlm.nih.gov/pubmed/18362922
 


 

 Friedrich’s Ataxia: Disease info

1. Friedreich’s ataxia: past, present and future.
 http://www.ncbi.nlm.nih.gov/pubmed/21550666

 Ornithine transcarbamylase deficiency: Disease info

1. Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
 http://www.ncbi.nlm.nih.gov/pubmed/18562231