Results 31 to 40 of about 1,111 (177)

Involvement of aspartoacylase in tremor expression in rats

Experimental Animals, 2016
Essential tremor (ET) is a common movement disorder with a poorly understood etiology. The TRM/Kyo mutant rat, showing spontaneous tremor, is an animal model of ET. Recently, we demonstrated that tremors in these rats emerge when two mutant loci, a missense mutation in the hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 (Hcn1 ...
Nishitani, Ai, Tanaka, Miyuu, Shimizu, Saki, Kunisawa, Naofumi, Yokoe, Mayuko, Yoshida, Yusaku, Suzuki, Toshiro, Sakuma, Tetsushi, Yamamoto, Takashi, Kuwamura, Mitsuru, Takenaka, Shigeo, Ohno, Yukihiro, Kuramoto, Takashi   +12 more
openaire   +3 more sources

Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease

Frontiers in Molecular Neuroscience, 2017
Canavan disease is caused by mutations in the gene encoding aspartoacylase (ASPA), a deacetylase that catabolizes N-acetylaspartate (NAA). The precise involvement of elevated NAA in the pathogenesis of Canavan disease is an ongoing debate. In the present
Abhilash P. Appu, John R. Moffett, Peethambaran Arun, Sean Moran, Vikram Nambiar, Jishnu K. S. Krishnan, Narayanan Puthillathu, Aryan M. A. Namboodiri   +7 more
doaj   +1 more source

Therapeutic development for Canavan disease using patient iPSCs introduced with the wild-type ASPA gene

iScience, 2022
Summary: Canavan disease (CD) is a devastating neurological disease that lacks effective therapy. Because CD is caused by mutations of the aspartoacylase (ASPA) gene, we introduced the wild-type (WT) ASPA gene into patient iPSCs through lentiviral ...
Jianfei Chao, Lizhao Feng, Peng Ye, Xianwei Chen, Qi Cui, Guihua Sun, Tao Zhou, E Tian, Wendong Li, Weidong Hu, Arthur D. Riggs, Reuben Matalon, Yanhong Shi   +12 more
doaj   +1 more source

Preclinical biodistribution, tropism, and efficacy of oligotropic AAV/Olig001 in a mouse model of congenital white matter disease

Molecular Therapy: Methods & Clinical Development, 2021
Recent advances in adeno-associated viral (AAV) capsid variants with novel oligotropism require validation in models of disease in order to be viable candidates for white matter disease gene therapy.
Jeremy S. Francis, Vladimir Markov, Irenuez D. Wojtas, Steve Gray, Thomas McCown, R. Jude Samulski, Marciano Figueroa, Paola Leone   +7 more
doaj   +1 more source

Bimodal occurrence of aspartoacylase in myelin and cytosol of brain [PDF]

Journal of Neurochemistry, 2006
AbstractThe growing use of N‐acetylaspartate as an indicator of neuronal viability has fostered interest in the biological function(s) of this unusual amino acid derivative. In considering the various physiological roles that have been proposed for this relatively abundant molecule one is obliged to take into account its unusual metabolic ...
Jianfeng, Wang, Reuben, Matalon, Gita, Bhatia, Gusheng, Wu, Hong, Li, Tong, Liu, Zi-Hua, Lu, Robert W, Ledeen   +7 more
openaire   +2 more sources

Myelin Lipid Abnormalities in the Aspartoacylase-Deficient Tremor Rat [PDF]

Neurochemical Research, 2008
The high concentration of N-acetylaspartate (NAA) in neurons of the central nervous system and its growing clinical use as an indicator of neuronal viability has intensified interest in the biological function of this amino acid derivative. The biomedical relevance of such inquiries is highlighted by the myelin-associated pathology of Canavan disease ...
Jianfeng, Wang, Paola, Leone, Gusheng, Wu, Jeremy S, Francis, Hong, Li, Mohit Raja, Jain, Tadao, Serikawa, Robert W, Ledeen   +7 more
openaire   +2 more sources

Developing Hypoimmunogenic Human iPSC‐Derived Oligodendrocyte Progenitor Cells as an Off‐The‐Shelf Cell Therapy for Myelin Disorders

Advanced Science, 2023
Demyelinating disorders are among the most common and debilitating diseases in neurology. Canavan disease (CD) is a lethal demyelinating disease caused by mutation of the aspartoacylase (ASPA) gene, which leads to the accumulation of its substrate N ...
Lizhao Feng, Jianfei Chao, Peng Ye, Qui Luong, Guoqiang Sun, Wei Liu, Qi Cui, Sergio Flores, Natasha Jackson, Afm Nazmul Hoque Shayento, Guihua Sun, Zhenqing Liu, Weidong Hu, Yanhong Shi   +13 more
doaj   +1 more source

Extensive aspartoacylase expression in the rat central nervous system [PDF]

Glia, 2011
Aspartoacylase (ASPA) catalyzes deacetylation of N-acetylaspartate (NAA) to generate acetate and aspartate. Mutations in the gene for ASPA lead to reduced acetate availability in the CNS during development resulting in the fatal leukodystrophy Canavan disease.
John R, Moffett, Peethambaran, Arun, Prasanth S, Ariyannur, James Y, Garbern, David M, Jacobowitz, Aryan M A, Namboodiri   +5 more
openaire   +2 more sources

Immunohistochemical localization of aspartoacylase in the rat central nervous system [PDF]

Journal of Comparative Neurology, 2004
AbstractAspartoacylase (ASPA; EC 3.5.1.15) catalyzes deacetylation of N‐acetylaspartate (NAA) to generate free acetate in the central nervous system (CNS). Mutations in the gene coding ASPA cause Canavan disease (CD), an autosomal recessive neurodegenerative disease that results in death before 10 years of age.
Chikkathur N, Madhavarao, John R, Moffett, Roger A, Moore, Ronald E, Viola, M A Aryan, Namboodiri, David M, Jacobowitz   +5 more
openaire   +2 more sources

Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy [PDF]

, 2018
N-Acetylaspartate (NAA) is the second most abundant organic metabolite in the brain, but its physiological significance remains enigmatic. Toxic NAA accumulation appears to be the key factor for neurological decline in Canavan disease—a fatal ...
Rowlands, BD, Housley, GD ; https://orcid.org/, Ittner, LM ; https://orcid.org/, Froehlich, Dominik ; https://orcid.org/, Harasta, AE, McLean, CA, Klugmann, CB, Cederholm, J ; https://orcid.org/, Parley, KE, Rae, CD ; https://orcid.org/, Pickford, R ; https://orcid.org/, Schneider, M, Delerue, F, Bongers, A ; https://orcid.org/, von Jonquieres, G ; https://orcid.org/, Fröhlich, D, Klugmann, M ; https://orcid.org/, Don, AS, Spencer, ZHT, Teahan, O   +19 more
core   +2 more sources