Results 41 to 50 of about 1,111 (177)

A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination

Disease Models & Mechanisms, 2014
Canavan disease is a leukodystrophy caused by mutations in the ASPA gene. This gene encodes the enzyme that converts N-acetylaspartate into acetate and aspartic acid.
Marina R. Carpinelli, Anne K. Voss, Michael G. Manning, Ashwyn A. Perera, Anne A. Cooray, Benjamin T. Kile, Rachel A. Burt   +6 more
doaj   +1 more source

Structure of aspartoacylase, the brain enzyme impaired in Canavan disease [PDF]

Proceedings of the National Academy of Sciences, 2007
Aspartoacylase catalyzes hydrolysis of N -acetyl- l -aspartate to aspartate and acetate in the vertebrate brain. Deficiency in this activity leads to spongiform degeneration of the white matter of the brain and is the established cause of Canavan disease, a fatal progressive leukodystrophy ...
Eduard, Bitto, Craig A, Bingman, Gary E, Wesenberg, Jason G, McCoy, George N, Phillips   +4 more
openaire   +2 more sources

CDC42‐Effector Proteins Regulate Higher Order Structure of Septins Required for CNS Myelin Integrity

Glia, Volume 74, Issue 3, March 2026.
CDC42‐effector proteins 1/2 are present in CNS myelin. They facilitate the higher order structure of myelin septin filaments. Their loss impairs septin‐dependent scaffolding of myelin. Myelin outfoldings do not cause secondary neuropathology per se. ABSTRACT The regular structure of CNS myelin requires specialized structural proteins, including septin ...
Sophie Hümmert, Joana Paes de Faria, Olaf Jahn, Ege Bilgin, Nikola Łukasik, Chethana Rao, Mišo Mitkovski, Fritz Benseler, Nils Brose, Sophie B. Siems, Sandra Goebbels, Wiebke Möbius, Helge Ewers, João B. Relvas, Hauke B. Werner   +14 more
wiley   +1 more source

Identification and Characterization of Hypothalamic Alternative Splicing Events and Variants in Ovine Fecundity-Related Genes

Animals, 2020
Previous studies revealed that alternative splicing (AS) events and gene variants played key roles in reproduction; however, their location and distribution in hypothalamic fecundity-related genes in sheep without the FecB mutation remain largely unknown.
Zhuangbiao Zhang, Jishun Tang, Xiaoyun He, Ran Di, Xiaosheng Zhang, Jinlong Zhang, Wenping Hu, Mingxing Chu   +7 more
doaj   +1 more source

Noninvasive 11.7‐T Magnetic Resonance Spectroscopy and Imaging Reveals Retinal Metabolic Alterations Induced by Blue Light Exposure

NMR in Biomedicine, Volume 39, Issue 3, March 2026.
Retinal metabolic changes were analyzed using proton magnetic resonance spectroscopy (1H‐MRS), marking an initial application of this non‐invasive method on living eyes. Key metabolites were identified within the retinal region of adult rats. The observed changes following intense blue light exposure were predominantly attributable to the retina, as it
Lacramioara Samoila, Alexandru Farcasanu, Simion Simon, Ede Bodoki, Ovidiu Samoila, Oliviu Vostinaru, Elena Dinte, Andreea Elena Bodoki, Dan Iudean, Calin Muresan, Simona Clichici   +10 more
wiley   +1 more source

Transport of N-acetylaspartate via murine sodium/dicarboxylate cotransporter NaDC3 and expression of this transporter and aspartoacylase II in ocular tissues in mouse

, 2004
Canavan disease is a genetic disorder associated with optic neuropathy and the metabolism of N-acetylaspartate is defective in this disorder due to mutations in the gene coding for the enzyme aspartoacylase II.
Huang, Wei, Naggar, Hany A., Smith, Sylvia B., Ganapathy, Vadivel, George, Ronald L.   +4 more
core   +1 more source

Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice [PDF]

, 2020
Marked elevation in the brain concentration of N-acetyl-L-aspartate (NAA) is a characteristic feature of Canavan disease, a vacuolar leukodystrophy resulting from deficiency of the oligodendroglial NAA-cleaving enzyme aspartoacylase.
McDonough, Jennifer, Guo, Fuzheng, Zhang, Sheng, Pleasure, David, Sheng Zhang, Vanessa Hull, Wang, Yan, Sternbach, Sarah, Sarah Sternbach, Jennifer McDonough, Fuzheng Guo, Burns, Travis, Yan Wang, David Pleasure, Hull, Vanessa, Travis Burns   +15 more
core   +1 more source

Breast Cancer Brain Metastasis: Bridging Biological Mechanisms to Therapeutic Innovations

MedComm – Oncology, Volume 4, Issue 4, December 2025.
Breast cancer brain metastasis (BCBrM) is driven by a multistep metastatic cascade and shaped by dynamic tumor–brain interactions. This review integrates current mechanistic insights, from molecular signaling pathways to immune evasion, and evaluates preclinical models and emerging therapies.
Jing Feng, Yuwei Tao, Fengkai Li, Suling Liu   +3 more
wiley   +1 more source

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity [PDF]

, 2017
We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the function of aspartoacylase-the hydrolysis of N-acetyl-l-aspartic acid (NAA) to ...
van Dooren, Silvy Jm, Smith, Desiree E. C., Fernandez Ojeda, M.R., Kayserili, H., Salomons, Gajja S., Fernandez Ojeda, Matilde, Kariminejad, Ariana, Smith, D.E., Salomons, G.S., Kanhai, Warsha, Roubertie, A., Lennertz, P., Lennertz, Pascal, Mendes, Marisa I., Kanhai, Warsha A., Fernandez Ojeda, Matilde R., Kanhai, W.A., Vianey-Saban, Christine, Salomons, Gajja, Dooren, S.J. van, de Boer, Lonneke, Roubertie, Agathe, van Dooren, Silvy J.M., Pop, Ana, Mendes, M.I., Pop, A., Campistol, J., Barić, Ivo, Williams, M., Anikster, Yair, Williams, Monique, Anikster, Y., Verbruggen, K.T., Boelen, Caroline, Ojeda, Matilde R. Fernandez, Boelen, C., Verbruggen, Krijn T., Boer, L. de, Baric, I., Smith, Desirée Ec, van Dooren, Silvy J. M., Kariminejad, A., Campistol, Jaime, Kayserili, Hulya, Vianey-Saban, C., Smith, Desirée E.C., Mendes, Marisa, Verbruggen, Krijn   +47 more
core   +1 more source

Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse

Neurobiology of Disease, 2005
Canavan disease (CD) is a neurodegenerative disorder characterized by the spongy degeneration of the white matter of the brain. Aspartoacylase (ASPA) gene mutation resulting enzyme deficiency is the basic cause of CD.
Sankar Surendran, Gerald A. Campbell, Stephen K. Tyring, Reuben Matalon   +3 more
doaj   +1 more source