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

Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis

(2022) Toshiki Tsunogai et al.   Molecular Therapy-Methods & Clinical Development

A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy

(2021) Sichi Liu et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

The GM2 Gangliosidoses: Unlocking the Mysteries of Pathogenesis and Treatment

(2021) Camilo Toro et al.   NEUROSCIENCE LETTERS

GM1 Gangliosidosis—A Mini-Review

(2021) Elena-Raluca Nicoli et al.   Frontiers in Genetics

Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GM1-Gangliosidosis

(2020) Deborah Eikelberg et al.   Journal of Clinical Medicine

A single injection of an optimized AAV vector into cerebrospinal fluid corrects neurological disease in a murine model of GM1 gangliosidosis

(2020) Christian Hinderer et al.   HUMAN GENE THERAPY

GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease

(2020) Seçil Akyıldız Demir et al.   Journal of Neuroinflammation

Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease

(2018) Volkan Seyrantepe et al.   EXPERIMENTAL NEUROLOGY

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study

(2018) Igor Nestrasil et al.   MOLECULAR GENETICS AND METABOLISM

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B

(2018) Michael J. Przybilla et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis

(2015) Debra S. Regier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan

(2015) Cara M. Weismann et al.   HUMAN MOLECULAR GENETICS

CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo

(2015) Miguel A Moreno-Mateos et al.   NATURE METHODS

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

AAV-Mediated Gene Delivery in Adult GM1-Gangliosidosis Mice Corrects Lysosomal Storage in CNS and Improves Survival

(2010) Rena C. Baek et al.   PLoS One

MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis

(2009) E. De Grandis et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Functional testing in a mouse stroke model induced by occlusion of the distal middle cerebral artery

(2009) Judith Lubjuhn et al.   JOURNAL OF NEUROSCIENCE METHODS

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

(2008) Elena Elliot-Smith et al.   MOLECULAR GENETICS AND METABOLISM