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