Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients

Nicoli, Elena‐Raluca; Huebecker, Mylene; Han, Sejin; Garcia, Karolyn; Munasinghe, Jeeva; Lizak, Martin J.; Latour, Yvonne L.; Yoon, Robin; Glase, Brianna; Tyrlik, Michal; Peiravi, Morteza; Springer, Danielle; Baker, Eva H.; Priestman, David A.; Sidhu, Rohini; Kell, Pamela; Jiang, Xuntian; Kolstad, Josephine; Kühn, Anna Luisa; Shazeeb, Mohammed Salman; Acosta, Maria T.; Proia, Richard L.; Platt, Frances M.; Tifft, Cynthia J.

doi:10.1016/j.ymgme.2023.107508

Cited by 3 publications

(7 citation statements)

References 38 publications

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“…Glb1 KO mice were generated using CRISPR/Cas9 as described ( 3 ). The mutant mice carry a 17 bp deletion in exon 2 and a 28 bp deletion in exon 6.…”

Section: Methodsmentioning

confidence: 99%

“…The mutant mice carry a 17 bp deletion in exon 2 and a 28 bp deletion in exon 6. The deletion in exon 2 results in a frameshift and predicted premature termination within exon 3 ( 3 ).…”

Section: Methodsmentioning

confidence: 99%

“…These forms are characterized by slower disease progression and longer survival times. Interestingly, Glb1 null mouse models, which totally lack lysosomal β-galactosidase activity, exhibit a less severe form of the disease than expected based on comparable enzyme deficiencies in humans ( 3 ), suggesting the existence of a disease-modifying GM1 ganglioside degradation pathway in mice.…”

mentioning

confidence: 94%

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Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

Allende,

Lee,

Byrnes

et al. 2023

Journal of Lipid Research

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“…Glb1 KO mice were generated using CRISPR/Cas9 as described ( 3 ). The mutant mice carry a 17 bp deletion in exon 2 and a 28 bp deletion in exon 6.…”

Section: Methodsmentioning

confidence: 99%

“…The mutant mice carry a 17 bp deletion in exon 2 and a 28 bp deletion in exon 6. The deletion in exon 2 results in a frameshift and predicted premature termination within exon 3 ( 3 ).…”

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 94%

See 1 more Smart Citation

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

Allende,

Lee,

Byrnes

et al. 2023

Journal of Lipid Research

Self Cite

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“…On the other hand, the lifespan of these mice was about 50 weeks and female mice died earlier than males. Behavioral analyzes of the mice showed that, like type II patients, the legs were placed abnormally, the length of the mice's steps decreased, and their standing width increased 85 …”

Section: Animal Models Of Gm1 Gangliosidosismentioning

confidence: 99%

“…Behavioral analyzes of the mice showed that, like type II patients, the legs were placed abnormally, the length of the mice's steps decreased, and their standing width increased. 85…”

Section: Genotype-phenotype Correlationmentioning

confidence: 99%

Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies

Hosseini,

Fallahi,

Tabei

et al. 2023

Cell Biochemistry & Function

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One of the most important inherited metabolic disorders is GM1 gangliosidosis, which is a progressive neurological disorder. The main cause of this disease is a genetic defect in the enzyme β‐galactosidase due to a mutation in the glb1 gene. Lack of this enzyme in cells (especially neurons) leads to the accumulation of ganglioside substrate in nerve tissues, followed by three clinical forms of GM1 disease (neonatal, juvenile, and adult variants). Genetically, many mutations occur in the exons of the glb1 gene, such as exons 2, 6, 15, and 16, so the most common ones reported in scientific studies include missense/nonsense mutations. Therefore, many studies have examined the genotype‐phenotype relationships of this disease and subsequently using gene therapy techniques have been able to reduce the complications of the disease and alleviate the signs and symptoms of the disease. In this regard, the present article reviews the general features of GM1 gangliosidosis and its mutations, as well as gene therapy studies and animal and human models of the disease.

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GM1 gangliosidosis, Morquio disease, galactosialidosis, and sialidosis

Gallagher,

Yingling,

Esteves

et al. 2025

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

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Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients

Cited by 3 publications

References 38 publications

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies

GM1 gangliosidosis, Morquio disease, galactosialidosis, and sialidosis

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