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Research

Yang, Su, Ph.D.

Posted on June 22, 2017

Developing the MANF-based therapeutic approach for Spinocerebellar Ataxia 17 Spinocerebellar Ataxia 17 (SCA17) is a progressive neurodegenerative disease that is genetically inherited. The cause of SCA17 is a specific mutation in the gene encoding a protein named TATA box binding protein (TBP), which makes TBP become misfolded and toxic. SCA17 is characterized by prominent neuronal Read More…


Singh, Pankaj Kumar, Ph.D.

Posted on June 22, 2017

Unravelling pathomechanisms of muscle dysfunction in an autosomal recessive cerebellar ataxia 2 (ARCA2) mice model Mutation in AarF Domain Containing Kinase 3 (ADCK3) gene leads to autosomal recessive cerebellar ataxia 2 (ARCA2). The prevalent features of the disease include ataxia, cerebellar atrophy, ubiquinone deficiency in muscle and exercise intolerance. The pathogenic protein ADCK3, is a Read More…


Santana, Magda Matos, PharmD, Ph.D.

Posted on June 22, 2017

Advanced Induced Pluripotent Stem Cell-based Models of Machado-Joseph disease Machado–Joseph disease (MJD), or spinocerebellar ataxia type 3, is a neurodegenerative polyQ disease and the most common of the dominantly inherited ataxias worldwide. Despite important progresses in the knowledge of the pathological mechanisms involved we still miss effective therapies. Advances in this field depend on innovative Read More…


Cohen, Rachael L., DVM

Posted on June 22, 2017

Molecular Pathogenesis of Spinocerebellar Ataxia Type 12 Spinocerebellar ataxia type 12 (SCA12) is a rare progressive autosomal dominant neurodegenerative disease. SCA12 is caused by a CAG trinucleotide repeat expansion (normal Read More…


Raskind, Wendy H., M.D., Ph.D.

Posted on June 22, 2017

Oligonucleotide-based Therapy in BAC-Mouse Models of SCA14 SCA14 is one of the autosomal dominant spinocerebellar ataxias that are not caused by expansion of a DNA repeat sequence. It is a typical SCA and like others, there is no treatment to prevent, stop or slow its progression. We previously discovered that SCA14 is caused by mutations Read More…


Ranum, Laura, Ph.D.

Posted on June 22, 2017

ASO targeting of bidirectional transcripts and RAN translation in SCA8 The spinocerebellar ataxias are often caused by repeat expansion mutations in which repetitive stretches of three or more letters of the genetic code are repeated extra times. The genetic mutation is found in families with a dominant history of disease but also frequently appears in Read More…


Tumbale, Percy, Ph.D.

Posted on June 22, 2017

Expanded Roles for Aprataxin Mutations in Ataxia Oculomotor Apraxia 1 (AOA1) Ataxia Oculomotor Apraxia 1 (AOA1) is an autosomal recessive ataxia which resembles Friedreich’s Ataxia (FA) and Ataxia-Telangiectasia (A-T) but without the extra-neurological features. The clinical characteristics of AOA1 are difficulty coordinating movements (ataxia), impaired initiation of saccadic eye movement (oculomotor apraxia), and neuropathy. AOA1 Read More…


Tsou, Wei-Ling, Ph.D.

Posted on June 22, 2017

Mechanisms of Neuroprotection by DnaJ-1 in Spinocerebellar Ataxia Type 6 Spinocerebellar Ataxia Type 6 (SCA6) is a type of dominantly inherited ataxia that impacts overall motility and can also present with impaired eye movements. There are currently no treatments that are effective in the clinic for SCA6. In an effort to identify viable options for Read More…


Scaglione, Kenneth Matthew, Ph.D.

Posted on June 22, 2017

Investigation into polyglutamine in Dictyostelium Two of the three major genetic categories of the Spinocerebellar ataxias (SCAs) are caused by the presence of repetitive genetic elements. Many of these repetitive genetic elements are made into proteins and result in the formation of toxic clumps of protein. Investigation of how these clumps of protein cause toxicity Read More…


Richard, Patricia, Ph.D.

Posted on June 22, 2017

Role of the SETX/CHD3 interaction in the DNA damage response and its connection to AOA2 Neurological diseases are disorders of the brain, spinal cord and nerves that control the body. Ataxia Oculomotor Apraxia type 2 (AOA2) is a clinical manifestation of the dysfunction of parts of the nervous system (the cerebellum) that coordinate movement and Read More…


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