Cargando…

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

BACKGROUND: Beta‐galactosidase‐1 ( GLB1) is a lysosomal hydrolase that is responsible for breaking down specific glycoconjugates, particularly GM1 (monosialotetrahexosylganglioside). Pathogenic variants in GLB1 cause two different lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharid...

Descripción completa

Detalles Bibliográficos
Autores principales:	Richter, John E., Zimmermann, Michael T., Blackburn, Patrick R., Mohammad, Ahmed N., Klee, Eric W., Pollard, Laura M., Macmurdo, Colleen F., Atwal, Paldeep S., Caulfield, Thomas R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305665/ https://www.ncbi.nlm.nih.gov/pubmed/30187681 http://dx.doi.org/10.1002/mgg3.454

Ejemplares similares

GM2 Gangliosidosis in Shiba Inu Dogs with an In‐Frame Deletion in HEXB
por: Kolicheski, A., et al.
Publicado: (2017)

Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis
por: Latour, Yvonne L., et al.
Publicado: (2019)

GM1 Gangliosidosis: Mechanisms and Management
por: Rha, Allisandra K, et al.
Publicado: (2021)

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome
por: Zimmermann, Michael T., et al.
Publicado: (2017)

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis
por: Allende, Maria L., et al.
Publicado: (2023)

GM1 Gangliosidosis—A Mini-Review
por: Nicoli, Elena-Raluca, et al.
Publicado: (2021)

GM1gangliosidosis: Clinical and radiological clue to diagnosis
por: Suthar, Renu, et al.
Publicado: (2012)

Characterization of glycan substrates accumulating in GM1 Gangliosidosis
por: Lawrence, Roger, et al.
Publicado: (2019)

GM1‐Gangliosidosis Type III Associated Parkinsonism
por: Kaiyrzhanov, Rauan, et al.
Publicado: (2021)

Wishbone Sign in GM1 Type III Gangliosidosis
por: Agarwal, Ayush, et al.
Publicado: (2023)

Genetics and Therapies for GM2 Gangliosidosis
por: Cachón-González, María Begoña, et al.
Publicado: (2018)

Neuroradiological findings in GM2 gangliosidosis variant B1
por: Bano, Shahina, et al.
Publicado: (2011)

Clinical findings in Brazilian patients with adult GM1 gangliosidosis
por: Giugliani, Luciana, et al.
Publicado: (2019)

Progressive dystonia as a presenting manifestation of GM1 gangliosidosis
por: Mehta, Sahil, et al.
Publicado: (2019)

Late-infantile GM1 gangliosidosis: A case report
por: Noh, Eu Seon, et al.
Publicado: (2022)

Animal models of GM2 gangliosidosis: utility and limitations
por: Lawson, Cheryl A, et al.
Publicado: (2016)

Myelin Abnormalities in the Optic and Sciatic Nerves in Mice With GM1-Gangliosidosis
por: Heinecke, Karie A., et al.
Publicado: (2015)

Extensive Mongolian Spots in a Hypotonic Infant with GM1 Gangliosidosis
por: Ranjan, Suprabhat, et al.
Publicado: (2018)

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis
por: Kell, Pamela, et al.
Publicado: (2023)

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
por: Tonin, Rodolfo, et al.
Publicado: (2019)

GM1 GANGLIOSIDOSIS ASSOCIATED WITH NEONATAL-ONSET OF DIFFUSE ECCHYMOSES AND MONGOLIAN SPOTS
por: Dweikat, Imad, et al.
Publicado: (2011)

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing
por: Bouhouche, Ahmed, et al.
Publicado: (2018)

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene
por: Karimzadeh, Parvaneh, et al.
Publicado: (2017)

Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis
por: Deschenes, Natalie M., et al.
Publicado: (2023)

Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene
por: Wang, P., et al.
Publicado: (2017)

Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis
por: Kamate, Mahesh
Publicado: (2018)

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients
por: Akar, Halil Tuna, et al.
Publicado: (2022)

GM1‐gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat
por: Bingaman, Amanda, et al.
Publicado: (2022)

Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype
por: Richter, John E, et al.
Publicado: (2018)

GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan
por: UENO, Hiroshi, et al.
Publicado: (2015)

Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis
por: Tsunogai, Toshiki, et al.
Publicado: (2022)

Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis
por: Tsunogai, Toshiki, et al.
Publicado: (2022)

Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis
por: Clemente, Francesca, et al.
Publicado: (2022)

Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice
por: Chen, Joseph C., et al.
Publicado: (2020)

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
por: Lara‐Velazquez, Montserrat, et al.
Publicado: (2017)

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain
por: Coban, Mathew A., et al.
Publicado: (2020)

Serial MRI Features of Canine GM1 Gangliosidosis: A Possible Imaging Biomarker for Diagnosis and Progression of the Disease
por: Hasegawa, Daisuke, et al.
Publicado: (2012)

Novel Drug Candidates Improve Ganglioside Accumulation and Neural Dysfunction in GM1 Gangliosidosis Models with Autophagy Activation
por: Kajihara, Ryutaro, et al.
Publicado: (2020)

Population analysis of the GLB1 gene in South Brazil
por: Baiotto, Cléia, et al.
Publicado: (2011)

AAV-Mediated Gene Delivery in Adult GM1-Gangliosidosis Mice Corrects Lysosomal Storage in CNS and Improves Survival
por: Baek, Rena C., et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_0os6a17urjunr0fho8sfp55uao