Mark S. Sands
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View article: Chronic oral cannabidiol delays or prevents seizures in a mouse model of CLN2 disease
Chronic oral cannabidiol delays or prevents seizures in a mouse model of CLN2 disease Open
A growing body of literature describes the anti-inflammatory, neuroprotective, and anti-epileptic properties of the cannabis sativa constituent cannabidiol, suggesting that it might play a useful role in the treatment of neurodegenerative …
View article: William S. Sly (1932–2025): A compassionate pioneer in biochemical genetics
William S. Sly (1932–2025): A compassionate pioneer in biochemical genetics Open
William S. Sly, MD (1932–2025) was a biochemical geneticist who received his medical degree from Saint Louis University. He received additional training at the NIH with several members of the National Academy of Science and Nobel Prize win…
View article: GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice Open
The cellular etiology of seizures in CLN2 disease, a childhood-onset neurodegenerative lysosomal storage disorder caused by a deficiency of tripeptidyl peptidase 1 (TPP1), remains elusive. Given that Cln2R207X/R207X mice display fatal spon…
View article: Gene therapy ameliorates neuromuscular pathology in CLN3 disease
Gene therapy ameliorates neuromuscular pathology in CLN3 disease Open
CLN3 disease is a neuronopathic lysosomal storage disorder that severely impacts the central nervous system (CNS) while also inducing notable peripheral neuromuscular symptoms. Although considerable attention has been directed towards the …
View article: Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases
Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases Open
Lysosomal storage diseases (LSDs) are a group of inherited disorders caused by defects in genes that encode lysosomal enzymes, transmembrane proteins, or transport proteins. These defects typically lead to the accumulation of undegraded su…
View article: Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice
Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice Open
Background and aims Severe gastrointestinal (GI) symptoms occur in people with CLN3 disease, a neurodegenerative disorder. If left untreated these GI symptoms compromise life quality and may contribute to death. We hypothesized GI symptoms…
View article: Haploinsufficiency of lysosomal enzyme genes in Alzheimer’s disease
Haploinsufficiency of lysosomal enzyme genes in Alzheimer’s disease Open
There is growing evidence suggesting that the lysosome or lysosome dysfunction is associated with Alzheimer’s disease (AD). Pathway analysis of post mortem brain-derived proteomic data from AD patients shows that the lysosomal system is pe…
View article: GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice Open
GABAergic interneuron deficits have been implicated in the epileptogenesis of multiple neurological diseases. While epileptic seizures are a key clinical hallmark of CLN2 disease, a childhood-onset neurodegenerative lysosomal storage disor…
View article: circRNAs mediate the effect of chronic lysosomal dysfunction on Alzheimer’s disease pathology
circRNAs mediate the effect of chronic lysosomal dysfunction on Alzheimer’s disease pathology Open
Background Circular RNAs (circRNAs) and microRNAs (miRNAs) are non‐coding RNAs. CircRNAs modulate miRNA levels by sequestration. MiRNAs regulate amyloidogenic pathways, disrupting transcripts including APP, BACE1, and ADAM10. CircRNAs regu…
View article: Embryonic vitamin D deficiency programs hematopoietic stem cells to induce type 2 diabetes
Embryonic vitamin D deficiency programs hematopoietic stem cells to induce type 2 diabetes Open
View article: Bowel dysmotility and enteric neuron degeneration in lysosomal storage disease mice is prevented by gene therapy
Bowel dysmotility and enteric neuron degeneration in lysosomal storage disease mice is prevented by gene therapy Open
Background and aims Children with neurodegenerative disease often have debilitating gastrointestinal (GI) symptoms that may be due at least in part to underappreciated involvement of neurons in the enteric nervous system (ENS), the master …
View article: Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model
Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model Open
Although a disease-modifying therapy for classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) exists, poor understanding of cellular pathophysiology has hampered the development of more effective and persistent therapies. H…
View article: Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases
Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases Open
View article: Embryonic Vitamin D Deficiency Programs Hematopoietic Stem Cells to Induce Type 2 Diabetes
Embryonic Vitamin D Deficiency Programs Hematopoietic Stem Cells to Induce Type 2 Diabetes Open
Environmental factors may alter the fetal genome to cause metabolic diseases. It is unknown whether embryonic immune cell programming impacts the risk of type 2 diabetes in later life. We demonstrate that transplantation of fetal hematopoi…
View article: Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep
Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep Open
CLN1 disease, also called infantile neuronal ceroid lipofuscinosis (NCL) or infantile Batten disease, is a fatal neurodegenerative lysosomal storage disorder resulting from mutations in the CLN1 gene encoding the soluble lysosomal enzyme p…
View article: Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures
Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures Open
View article: 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
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 Open
Krabbe Disease (KD) is a lysosomal storage disorder characterized by the genetic deficiency of the lysosomal enzyme β-galactosyl-ceramidase (GALC). Deficit or a reduction in the activity of the GALC enzyme has been correlated with the prog…
View article: Cortical interneuron loss and seizure generation as novel clinically relevant disease phenotypes in <i>Cln2<sup>R207X</sup></i> mice
Cortical interneuron loss and seizure generation as novel clinically relevant disease phenotypes in <i>Cln2<sup>R207X</sup></i> mice Open
Aims CLN2 disease is a fatal inherited childhood neurodegenerative disorder. Although a disease-modifying therapy now exists, a fundamental lack of understanding of disease pathogenesis has hampered development of more effective therapies.…
View article: Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures
Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures Open
Cannabidiol (CBD) has gained attention as a therapeutic agent and is purported to have immunomodulatory, neuroprotective, and anti-seizure effects. Here, we determined the effects of chronic CBD administration in a mouse model of CLN1 dise…
View article: Recombinant NAGLU-IGF2 prevents physical and neurological disease and improves survival in Sanfilippo B syndrome
Recombinant NAGLU-IGF2 prevents physical and neurological disease and improves survival in Sanfilippo B syndrome Open
Recombinant human alpha- N -acetylglucosaminidase-insulin-like growth factor-2 (rhNAGLU-IGF2) is an investigational enzyme replacement therapy for Sanfilippo B, a lysosomal storage disease. Because recombinant human NAGLU (rhNAGLU) is poor…
View article: Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor
Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor Open
View article: Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome
Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome Open
View article: Krabbe disease: New hope for an old disease
Krabbe disease: New hope for an old disease Open
View article: Waning efficacy in a long-term AAV-mediated gene therapy study in the murine model of Krabbe disease
Waning efficacy in a long-term AAV-mediated gene therapy study in the murine model of Krabbe disease Open
View article: Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease
Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease Open
View article: Generation of a stable packaging cell line producing high-titer PPT-deleted integration-deficient lentiviral vectors
Generation of a stable packaging cell line producing high-titer PPT-deleted integration-deficient lentiviral vectors Open
The risk of insertional mutagenesis inherent to all integrating exogenous expression cassettes was the impetus for the development of various integration-defective lentiviral vector (IDLV) systems. These systems were successfully employed …
View article: Macrophage secretion of miR-106b-5p causes renin-dependent hypertension
Macrophage secretion of miR-106b-5p causes renin-dependent hypertension Open
Myeloid cells are known mediators of hypertension, but their role in initiating renin-induced hypertension has not been studied. Vitamin D deficiency causes pro-inflammatory macrophage infiltration in metabolic tissues and is linked to ren…
View article: Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease
Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease Open
CLN1 disease is a fatal inherited neurodegenerative lysosomal storage disease of early childhood, caused by mutations in the CLN1 gene, which encodes the enzyme Palmitoyl protein thioesterase-1 (PPT-1). We recently found significant spinal…
View article: Spinal manifestations of CLN1 disease start during the early postnatal period
Spinal manifestations of CLN1 disease start during the early postnatal period Open
Aim To understand the progression of CLN1 disease and develop effective therapies we need to characterize early sites of pathology. Therefore, we performed a comprehensive evaluation of the nature and timing of early CLN1 disease pathology…
View article: Krabbe disease successfully treated via monotherapy of intrathecal gene therapy
Krabbe disease successfully treated via monotherapy of intrathecal gene therapy Open
Globoid cell leukodystrophy (GLD; Krabbe disease) is a progressive, incurable neurodegenerative disease caused by deficient activity of the hydrolytic enzyme galactosylceramidase (GALC). The ensuing cytotoxic accumulation of psychosine res…