Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II-Reference-Cited by-同舟云学术

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II

Published:2018-09-05 Issue:6 Volume:6 Page:1229-1235
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Richter John E.¹²,Zimmermann Michael T.³,Blackburn Patrick R.³⁴⁵^ORCID,Mohammad Ahmed N.¹,Klee Eric W.¹³⁴⁵,Pollard Laura M.⁶,Macmurdo Colleen F.⁷,Atwal Paldeep S.¹²^ORCID,Caulfield Thomas R.⁸^ORCID

Affiliation:

1. Department of Clinical Genomics; Mayo Clinic; Jacksonville Florida

2. Center for Individualized Medicine; Mayo Clinic; Jacksonville Florida

3. Division of Biomedical Statistics and Informatics; Department of Health Sciences Research; Mayo Clinic; Rochester Minnesota

4. Center for Individualized Medicine; Mayo Clinic; Rochester Minnesota

5. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota

6. Biochemical Genetics Laboratory; Greenwood Genetic Center; Greenwood South Carolina

7. Division of Medical Genetics; Baylor Scott & White Health; Temple Texas

8. Department of Neuroscience; Mayo Clinic; Jacksonville Florida

Funder

Mayo Clinic

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.454/fullpdf

Reference36 articles.

1. GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects;Brunetti-Pierri;Molecular Genetics and Metabolism,2008

2. GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings;Caciotti;Biochimica et Biophysica Acta,2011

3. Phosphorylation by PINK1 Releases the UBL Domain and Initializes the Conformational Opening of the E3 Ubiquitin Ligase Parkin;Caulfield;PLoS Computational Biology,2014

4. Molecular dynamics simulations of human DNA methyltransferase 3B with selective inhibitor nanaomycin A;Caulfield;Journal of Structural Biology,2011

5. Balancing an accurate representation of the molecular surface in generalized born formalisms with integrator stability in molecular dynamics simulations;Chocholousova;Journal of Computational Chemistry,2006

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