Mark S. Sands
Washington University in St. Louis
H-index: 64
North America-United States
Top articles of Mark S. Sands
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice | bioRxiv | Keigo Takahashi Nicholas R Rensing Elizabeth M Eultgen Sophie H Wang Hemanth R Nelvagal | 2024 |
Haploinsufficiency of lysosomal enzymes and Alzheimer’s disease | Molecular Genetics and Metabolism | Mark Sands Bruno Benitez Clare Wallace Neal Goodwin Kevin Odell | 2024/4/1 |
Decrease in psychosine in response to a ceramide galactosyltransferase inhibitor in a novel human cell model of Krabbe disease | Molecular Genetics and Metabolism | Rodrigo T Starosta Steven Q Le Xiaoxia Cui Robert E Schmidt Xuntian Jiang | 2024/2/1 |
An innovative gene therapy approach to produce novel GALC variant with enhanced protein stability and enzyme activity with high levels of mannose 6-phosphate for Krabbe disease | Molecular Genetics and Metabolism | Hung Do Mark Sands Yicheng Zhao Andrew Hedman Jennifer Srnak | 2024/2/1 |
Assessing the Co-Chaperone and Synaptic Protein DNAJC5 as a Therapeutic Target in Alzheimer’s Disease (P1-6.010) | Matthew Rosene Niko Nykänen Kevin O’Dell Marie Nunez Oscar Harari | 2023/4/25 | |
Spontaneous seizures associated with cortical interneuron loss in Cln2R207X mice are ameliorated via gene therapy | Molecular Genetics and Metabolism | Keigo Takahashi Elizabeth M Eultgen Sophie H Wang Nicholas Rensing Hemanth R Nelvagal | 2023/2/1 |
circRNAs mediate the effect of chronic lysosomal dysfunction on Alzheimer’s disease pathology | Alzheimer's & Dementia | Skarleth Cardenas Romero Abdallah M Eteleeb Niko‐Petteri Nykanen Kevin O’Dell Marie Nunez | 2023/12 |
Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases | Gregory Heller Allison M Bradbury Mark S Sands Ernesto R Bongarzone | 2023/1/4 | |
Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model | The Journal of Clinical Investigation | Keigo Takahashi Elizabeth M Eultgen Sophie H Wang Nicholas R Rensing Hemanth R Nelvagal | 2023/6/15 |
Bowel dysmotility and enteric neuron degeneration in lysosomal storage disease mice is prevented by gene therapy | bioRxiv | Matthew J Jansen Letitia L Williams Sophie Wang Elizabeth M Eultgen Keigo Takahashi | 2023 |
Embryonic vitamin D deficiency programs hematopoietic stem cells to induce type 2 diabetes | Nature communications | Jisu Oh Amy E Riek Kevin T Bauerle Adriana Dusso Kyle P McNerney | 2023/6/13 |
A positive feedback loop between chronic lysosomal dysfunction and circRNAs in Alzheimer’s disease mouse models (P5-6.008) | Skarleth Cardenas Romero Abdallah Etelee Niko Nikane Kevin O’Dell Marie Roberts | 2023/4/25 | |
Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures | Scientific reports | Joshua T Dearborn Hemanth R Nelvagal Nicholas R Rensing Keigo Takahashi Stephanie M Hughes | 2022/7/4 |
Methods of detecting, preventing, reversing, and treating neurological diseases | 2022/1/27 | ||
CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β–Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease | Frontiers in Molecular Neuroscience | Rima Rebiai Emily Rue Steve Zaldua Duc Nguyen Giuseppe Scesa | 2022/5/10 |
Cortical interneuron loss and seizure generation as novel clinically relevant disease phenotypes in Cln2R207X mice | bioRxiv | Keigo Takahashi Elizabeth M Eultgen Sophie H Wang Nicholas R Rensing Hemanth R Nelvagal | 2022/3/13 |
Efficacy of recombinant human PPT1 enzyme replacement therapy in mouse and sheep models of CLN1 disease | Molecular Genetics and Metabolism | Hemanth R Nelvagal Samantha L Eaton Sophie H Wang Elizabeth M Eultgen Keigo Takahashi | 2022/2/1 |
Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep | The Journal of Clinical Investigation | Hemanth R Nelvagal Samantha L Eaton Sophie H Wang Elizabeth M Eultgen Keigo Takahashi | 2022/10/17 |
Amelioration of enteric nervous system defects via gene therapy in CLN1 disease mice | Molecular Genetics and Metabolism | Jonathan D Cooper Sophie H Wang Letitia L Williams Elizabeth M Eultgen Keigo Takahashi | 2022/2/1 |
Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome | Molecular genetics and metabolism | Shih-hsin Kan Ibrahim Elsharkawi Steven Q Le Heather Prill Linley Mangini | 2021/6/1 |
