Gangliosidosis Latest Advances

Find the Latest Research About Gangliosidosis

Last Updated: 06/30/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 2991 publications

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report.

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report.

Journal: Frontiers in pediatrics
Published: March 26, 2026

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.

Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.

Journal: Molecular genetics and metabolism
Published: March 25, 2026

Pyrimethamine-based targeting of HEXA gene mutations in Tay-Sachs disease: a computational analysis.

Pyrimethamine-based targeting of HEXA gene mutations in Tay-Sachs disease: a computational analysis.

Journal: Journal of biomolecular structure & dynamics
Published: February 20, 2026

AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial.

AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial.

Journal: The New England journal of medicine
Published: February 10, 2026

The RAINBOW study: a phase 2 trial evaluating the 3-month pharmacokinetic and pharmacodynamic data and 18-month clinical and safety outcomes of nizubaglustat in GM2 gangliosidoses or Niemann-Pick type C disease.

The RAINBOW study: a phase 2 trial evaluating the 3-month pharmacokinetic and pharmacodynamic data and 18-month clinical and safety outcomes of nizubaglustat in GM2 gangliosidoses or Niemann-Pick type C disease.

Journal: Molecular genetics and metabolism
Published: January 30, 2026

Development of Small-Molecule Allosteric Modulators of Beta-Galactosidase (β-Gal) for the Treatment of GM1 Gangliosidosis and Morquio B.

Development of Small-Molecule Allosteric Modulators of Beta-Galactosidase (β-Gal) for the Treatment of GM1 Gangliosidosis and Morquio B.

Journal: International journal of molecular sciences
Published: January 30, 2026

Late-onset manifestation of Tay-Sachs disease-A disease of the cerebellum and motor neurons with psychiatric sequelae

Late-onset manifestation of Tay-Sachs disease-A disease of the cerebellum and motor neurons with psychiatric sequelae

Journal: Der Nervenarzt
Published: January 26, 2026

Cerebrospinal Delivery of a Bidirectional Aav9 Vector Improves Optic Nerve and Retinal Pathology in a Sheep Model of Tay-Sachs Disease.

Cerebrospinal Delivery of a Bidirectional Aav9 Vector Improves Optic Nerve and Retinal Pathology in a Sheep Model of Tay-Sachs Disease.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: January 22, 2026

Correction: Vyas et al. Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis. Int. J. Mol. Sci. 2023, 24, 14611.

Correction: Vyas et al. Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis. Int. J. Mol. Sci. 2023, 24, 14611.

Journal: International journal of molecular sciences
Published: January 17, 2026

Bilateral Macular Cherry-Red Spots in Infantile Sandhoff Disease.

Bilateral Macular Cherry-Red Spots in Infantile Sandhoff Disease.

Journal: Ophthalmology. Retina
Published: January 15, 2026

Novel Galactosidase-Beta-1 Variant in Infantile GM1 Gangliosidosis: A Case Report.

Novel Galactosidase-Beta-1 Variant in Infantile GM1 Gangliosidosis: A Case Report.

Journal: Cureus
Published: January 15, 2026

Tay-Sachs disease models: From cellular and animal models to treatment perspectives.

Tay-Sachs disease models: From cellular and animal models to treatment perspectives.

Journal: Molecular genetics and metabolism
Published: January 15, 2026
Showing 1-12 of 2,991

Last Updated: 06/30/2026