Results 21 to 30 of about 888 (137)

Combined transcriptome and proteome analyses reveal differences in the longissimus dorsi muscle between Kazakh cattle and Xinjiang brown cattle [PDF]

Animal Bioscience, 2021
Objective With the rapid development of proteomics sequencing and RNA sequencing technology, multi-omics analysis has become a current research hotspot.
XiangMin Yan, Jia Wang, Hongbo Li, Liang Gao, Juan Geng, Zhen Ma, Jianming Liu, Jinshan Zhang, Penggui Xie, Lei Chen   +9 more
doaj   +1 more source

Mutational analysis of aspartoacylase: Implications for Canavan Disease [PDF]

Brain Research, 2007
Mutations that result in near undetectable activity of aspartoacylase, which catalyzes the deacetylation of N-acetyl-l-aspartate, correlate with Canavan Disease, a neurodegenerative disorder usually fatal during childhood. The underlying biochemical mechanisms of how these mutations ablate activity are poorly understood.
Jeremy R, Hershfield, Nagarajan, Pattabiraman, Chikkathur N, Madhavarao, M A Aryan, Namboodiri   +3 more
openaire   +2 more sources

Canavan Disease: Clinical and laboratory profile from Southern part of India

Annals of Indian Academy of Neurology, 2021
Background: Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population.
Vykuntaraju K Gowda, Narmadham K Bharathi, Jamunashree Bettaiah, Maya Bhat, Sanjay K Shivappa   +4 more
doaj   +1 more source

Pathological Bergmann glia alterations and disrupted calcium dynamics in ataxic Canavan disease mice

Glia, Volume 71, Issue 12, Page 2832-2849, December 2023., 2023
Main Points Bergmann glia (BG) exhibit structural and functional alterations in Canavan disease mice, a leukodystrophy model. Our findings suggest that BG could drive noncell autonomous cerebellar neurodegeneration and may mediate repair in our therapeutic model.
Vanessa L. Hull, Yan Wang, Travis Burns, Sarah Sternbach, Shuaishuai Gong, Jennifer McDonough, Fuzheng Guo, Laura N. Borodinsky, David Pleasure   +8 more
wiley   +1 more source

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

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

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