Mark S. Sands - Publications, H-index & Citations

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Mark S. Sands

washington university

63H-index

229Paper Count

1.1WCitation Count

Published Papers 75

Publication Date

Systemic AAV9 Gene Therapy Mitigates Neuromuscular Junction Degeneration and Muscle Atrophy in a Mouse Model of CLN1 Disease

International Journal of Molecular Sciences

IF4.9

2026-03-31

OAAI

Ewa A. Ziółkowska; Albina Jablonka-Shariff; Letitia L. Williams; Elizabeth M. Eultgen; Matthew D. Wood; Daniel A. Hunter; Mark S. Sands; Alison K. Snyder-Warwick; Jonathan D. Cooper

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Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice

Acta Neuropathologica Communications

IF5.7

2025-12-22

OAAI

Ewa A. Ziółkowska; Letitia L. Williams; Matthew J. Jansen; Sophie H. Wang; Elizabeth M. Eultgen; Jaiprakash Sharma; Marco Sardiello; Rebecca P. Bradley; Ineka T. Whiteman; Mark S. Sands; Robert O. Heuckeroth; Jonathan D. Cooper

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GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice

JCI INSIGHT

IF6.1

2025-10-08

OAAI

Takahashi, Keigo; Rensing, Nicholas R.; Eultgen, Elizabeth M.; Williams, Letitia L.; Wang, Sophie H.; Nelvagal, Hemanth R.; Le, Steven Q.; Roberts, Marie S.; Doray, Balraj; Han, Edward B.; Dickson, Patricia I.; Wong, Michael; Sands, Mark S.; Cooper, Jonathan D.

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Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases

Molecular Genetics and Metabolism

IF3.5

2025-06-17

PREAI

Pamela Kell; Sonali Mishra; Heather L. Gray-Edwards; Douglas R. Martin; Angel Gaudioso; María Dolores Ledesma; Ernesto R. Bongarzone; Mark S. Sands; Ellen Sidransky; Daniel S. Ory; Xuntian Jiang

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Secondary accumulation of lyso-platelet activating factors in lysosomal diseases

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-01

PREAI

Jiang, Xuntian; Kell, Pamela; Mishra, Sonali; Gray-Edwards, Heather; Bongarzone, Ernesto R.; Sands, Mark; Martin, Douglas R.

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Hploinsufficiency of lysosomal enzymes and Alzheimer's disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-01

PREAI

Sands, Mark; Benitez, Bruno; Wallace, Clare; Goodwin, Neal; Roberts, Marie; Cirrito, John

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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

IF3.5

2024-02-01

PREAI

Do, Hung; Sands, Mark; Zhao, Yicheng; Hedman, Andrew; Srnak, Jennifer; Liu, Shou; Liu, Lin

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Decrease in psychosine in response to a ceramide galactosyltransferase inhibitor in a novel human cell model of Krabbe disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-02-01

PREAI

Starosta, Rodrigo T.; Le, Steven Q.; Cui, Xiaoxia; Schmidt, Robert E.; Jiang, Xuntian; Sands, Mark; Dickson, Patricia I.

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Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2023-06-15

OAAI

Takahashi, Keigo; Eultgen, Elizabeth M.; Wang, Sophie H.; Rensing, Nicholas R.; Nelvagal, Hemanth R.; Dearborn, Joshua T.; Danos, Olivier; Buss, Nicholas; Sands, Mark S.; Wong, Michael; Cooper, Jonathan D.

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Embryonic vitamin D deficiency programs hematopoietic stem cells to induce type 2 diabetes

NATURE COMMUNICATIONS

IF15.7

2023-06-13

OAAI

Oh, Jisu; Riek, Amy E.; Bauerle, Kevin T.; Dusso, Adriana; McNerney, Kyle P.; Barve, Ruteja A.; Darwech, Isra; Sprague, Jennifer E.; Moynihan, Clare; Zhang, Rong M.; Kutz, Greta; Wang, Ting; Xing, Xiaoyun; Li, Daofeng; Mrad, Marguerite; Wigge, Nicholas M.; Castelblanco, Esmeralda; Collin, Alejandro; Bambouskova, Monika; Head, Richard D.; Sands, Mark S.; Bernal-Mizrachi, Carlos

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A positive feedback loop between chronic lysosomal dysfunction and circRNAs in Alzheimer's disease mouse models

NEUROLOGY

IF8.5

2023-04-25

PREAI

Romero, Skarleth Cardenas; Etelee, Abdallah; Nikane, Niko; O'Dell, Kevin; Roberts, Marie; Harari, Oscar; Cirrito, John; Sands, Mark; Benitez, Bruno A.

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Assessing the Co-Chaperone and Synaptic Protein DNAJC5 as a Therapeutic Target in Alzheimer's Disease

NEUROLOGY

IF8.5

2023-04-25

PREAI

Rosene, Matthew; Nykanen, Niko; O'Dell, Kevin; Nunez, Marie; Harari, Oscar; Cirrito, John; Sands, Mark; Benitez, Bruno

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Spontaneous seizures associated with cortical interneuron loss in Cln2R207X mice are ameliorated via gene therapy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2023-02-01

PREAI

Takahashi, Keigo; Eultgen, Elizabeth M.; Wang, Sophie H.; Rensing, Nicholas; Nelvagal, Hemanth R.; Dearborn, Joshua T.; Danos, Olivier; Buss, Nicholas; Sands, Mark; Wong, Michael; Cooper, Jonathan D.

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Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases

MOLECULAR THERAPY

IF12

2023-01-01

OAAI

Heller, Gregory; Bradbury, Allison M.; Sands, Mark S.; Bongarzone, Ernesto R.

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Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2022-10-17

OAAI

Nelvagal, Hemanth R.; Eaton, Samantha L.; Wang, Sophie H.; Eultgen, Elizabeth M.; Takahashi, Keigo; Le, Steven Q.; Nesbitt, Rachel; Dearborn, Joshua T.; Siano, Nicholas; Puhl, Ana C.; Dickson, Patricia, I; Thompson, Gerard; Murdoch, Fraser; Brennan, Paul M.; Gray, Mark; Greenhalgh, Stephen N.; Tennant, Peter; Gregson, Rachael; Clutton, Eddie; Nixon, James; Proudfoot, Chris; Guido, Stefano; Lillico, Simon G.; Whitelaw, C. Bruce A.; Lu, Jui-Yun; Hofmann, Sandra L.; Ekins, Sean; Sands, Mark S.; Wishart, Thomas M.; Cooper, Jonathan D.

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Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures

SCIENTIFIC REPORTS

IF3.9

2022-07-04

OAAI

Dearborn, Joshua T.; Nelvagal, Hemanth R.; Rensing, Nicholas R.; Takahashi, Keigo; Hughes, Stephanie M.; Wishart, Thomas M.; Cooper, Jonathan D.; Wong, Michael; Sands, Mark S.

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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

IF3.8

2022-05-10

OAAI

Rebiai, Rima; Rue, Emily; Zaldua, Steve; Nguyen, Duc; Scesa, Giuseppe; Jastrzebski, Martin; Foster, Robert; Wang, Bin; Jiang, Xuntian; Tai, Leon; Brady, Scott T.; van Breemen, Richard; Givogri, Maria I.; Sands, Mark S.; Bongarzone, Ernesto R.

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Amelioration of enteric nervous system defects via gene therapy in CLN1 disease mice

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-01

PREAI

Cooper, Jonathan D.; Wang, Sophie H.; Williams, Letitia L.; Eultgen, Elizabeth M.; Takahashi, Keigo; Nelvagal, Hemanth R.; Anderson, Jessica B.; Makita, Takako; DeBosch, Brian; Sands, Mark S.; Heuckeroth, Robert O.

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Efficacy of recombinant human PPT1 enzyme replacement therapy in mouse and sheep models of CLN1 disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-01

PREAI

Nelvagal, Hemanth R.; Eaton, Samantha L.; Wang, Sophie H.; Eultgen, Elizabeth M.; Takahashi, Keigo; Le, Steven Q.; Nesbitt, LaRachel; Dearborn, Joshua T.; Puhl, Ana C.; Dickson, Patricia I.; Brennan, Paul M.; Thompson, Gerard; Hofmann, Sandra L.; Ekins, Sean; Sands, Mark S.; Wishart, Thomas M.; Cooper, Jonathan D.

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Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor

SCIENTIFIC REPORTS

IF3.9

2021-07-14

OAAI

Babcock, Michael C.; Mikulka, Christina R.; Wang, Bing; Chandriani, Sanjay; Chandra, Sundeep; Xu, Yue; Webster, Katherine; Feng, Ying; Nelvagal, Hemanth R.; Giaramita, Alex; Yip, Bryan K.; Lo, Melanie; Jiang, Xuntian; Chao, Qi; Woloszynek, Josh C.; Shen, Yuqiao; Bhagwat, Shripad; Sands, Mark S.; Crawford, Brett E.

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Research Directions