Two patients with Canavan disease and structural modeling of a novel mutation-Reference-Cited by-同舟云学术

Two patients with Canavan disease and structural modeling of a novel mutation

Published:2016-08-17 Issue:1 Volume:32 Page:171-177
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Zaki Osama K,Krishnamoorthy Navaneethakrishnan,El Abd Heba S,Harche Soumaya A,Mattar Reem A,Al disi Rana S,Nofal Mariam Y.,El Bekay Rajaa,Ahmed Khalid A,George Priya Doss C,Zayed Hatem

Funder

Qatar University

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s11011-016-9896-9.pdf

Reference16 articles.

1. Bitto E, Bingman CA, Wesenberg GE, McCoy JG, GN JP (2007) Structure of aspartoacylase, the brain enzyme impaired in Canavan disease. Proc Natl Acad Sci U S A 104(2):456–461. doi: 10.1073/pnas.0607817104

2. Di Pietro V, Cavallari U, Amorini AM, Lazzarino G, Longo S, Poggiani C, Cavalli P, Tavazzi B (2013) New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. Clin Biochem 46(18):1902–1904. doi: 10.1016/j.clinbiochem.2013.09.004

3. Elpeleg ON, Shaag A (1999) The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. J Inherit Metab Dis 22(4):531–534

4. Gajendrarao P, Krishnamoorthy N, Kassem H, Moharem-Elgamal S, Cecchi F, Olivotto I, Yacoub MH (2013) Molecular modeling of disease causing mutations in domain C1 of cMyBP-C. PLoS One 8(3):e59206. doi: 10.1371/journal.pone.0059206

5. Gujar SK, Maheshwari S, Bjorkman-Burtscher I, Sundgren PC (2005) Magnetic resonance spectroscopy. J Neuroophthalmol 25(3):217–226

Cited by 34 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease;Cell & Bioscience;2024-04-06

2. Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature;Irish Journal of Medical Science (1971 -);2023-07-31

3. Computational identification and analysis of deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in the human POR gene: a structural and functional impact;Journal of Biomolecular Structure and Dynamics;2023-05-12

4. In silico exploration and molecular dynamics of deleterious SNPs on the human TERF1 protein triggering male infertility;Journal of Biomolecular Structure and Dynamics;2023-03-30

5. High risk genetic variants of human insulin receptor substrate 1(IRS1) infer structural instability and functional interference;Journal of Biomolecular Structure and Dynamics;2023-03-12