Charles H. Vite
YOU?
Author Swipe
View article: Adeno-associated vector corneal gene therapy reverses corneal clouding in a feline model of mucopolysaccharidosis VI
Adeno-associated vector corneal gene therapy reverses corneal clouding in a feline model of mucopolysaccharidosis VI Open
Mucopolysaccharidosis VI (MPS VI) is a rare, autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene ( ARSB ). Ocular manifestations of MPS VI include progressive corneal clouding, leading to vision lo…
View article: Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA
Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA Open
A 6-month-old cat of unknown ancestry presented for a neurologic evaluation due to progressive motor impairment. Complete physical and neurologic examinations suggested the disorder was likely to be hereditary, although the signs were not …
View article: A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency
A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency Open
A 7-month-old Doberman Pinscher dog presented with progressive neurological signs and brain atrophy suggestive of a hereditary neurodegenerative disorder. The dog was euthanized due to the progression of disease signs. Microscopic examinat…
View article: Efficacy and Safety of a Krabbe Disease Gene Therapy
Efficacy and Safety of a Krabbe Disease Gene Therapy Open
Krabbe disease is a lysosomal storage disease caused by mutations in the gene that encodes galactosylceramidase, in which galactosylsphingosine (psychosine) accumulation drives demyelination in the central and peripheral nervous systems, u…
View article: Meningeal B Cell Clusters Correlate with Submeningeal Pathology in a Natural Model of Multiple Sclerosis
Meningeal B Cell Clusters Correlate with Submeningeal Pathology in a Natural Model of Multiple Sclerosis Open
Multiple sclerosis (MS) is an idiopathic demyelinating disease in which meningeal inflammation correlates with accelerated disease progression. The study of meningeal inflammation in MS has been limited because of constrained access to MS …
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…
View article: Global CNS correction in a large brain model of human alpha-mannosidosis by intravascular gene therapy
Global CNS correction in a large brain model of human alpha-mannosidosis by intravascular gene therapy Open
Intravascular injection of certain adeno-associated virus vector serotypes can cross the blood–brain barrier to deliver a gene into the CNS. However, gene distribution has been much more limited within the brains of large animals compared …
View article: Pharmacokinetics and distribution of 2‐hydroxypropyl‐β‐cyclodextrin following a single intrathecal dose to cats
Pharmacokinetics and distribution of 2‐hydroxypropyl‐β‐cyclodextrin following a single intrathecal dose to cats Open
2‐Hydroxypropyl‐β‐cyclodextrin (HP‐β‐CD) is an experimental therapy for Niemann‐Pick disease type C (NPC) that reduced neuronal cholesterol and ganglioside storage, reduced Purkinje cell death, and increased lifespan in npc1 −/− mice and N…
View article: Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases
Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases Open
Lysosomal storage diseases (LSDs) are a group of 70 monogenic disorders characterized by the lysosomal accumulation of a substrate. As a group, LSDs affect ~1 in 5000 live births; however, each individual storage disease is rare, limiting …
View article: Quantitative DTI metrics in a canine model of Krabbe disease: comparisons versus age-matched controls across multiple ages
Quantitative DTI metrics in a canine model of Krabbe disease: comparisons versus age-matched controls across multiple ages Open
Purpose The purpose of this study was to compare quantitative diffusion tensor imaging metrics in dogs affected with a model of Krabbe disease to age-matched normal controls. We hypothesized that fractional anisotropy would be decreased an…
View article: LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss
LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss Open
The feline model of Niemann-Pick disease, type C1 (NPC1) recapitulates the clinical, neuropathological, and biochemical abnormalities present in children with NPC1. The hallmarks of disease are the lysosomal storage of unesterified cholest…
View article: AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease)
AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease) Open
Globoid cell leukodystrophy (GLD), or Krabbe disease, is an inherited, neurologic disorder that results from deficiency of a lysosomal enzyme, galactosylceramidase. Most commonly, deficits of galactosylceramidase result in widespread centr…
View article: Evaluation of Intrathecal Routes of Administration for Adeno-Associated Viral Vectors in Large Animals
Evaluation of Intrathecal Routes of Administration for Adeno-Associated Viral Vectors in Large Animals Open
Delivery of adeno-associated viral (AAV) vectors into the cerebrospinal fluid (CSF) can achieve gene transfer to cells throughout the brain and spinal cord, potentially making many neurological diseases tractable gene therapy targets. Iden…
View article: Novel region of interest interrogation technique for diffusion tensor imaging analysis in the canine brain
Novel region of interest interrogation technique for diffusion tensor imaging analysis in the canine brain Open
Purpose We describe a novel technique for measuring diffusion tensor imaging metrics in the canine brain. We hypothesized that a standard method for region of interest placement could be developed that is highly reproducible, with less tha…
View article: Temporal behavior of seizures and interictal bursts in prolonged intracranial recordings from epileptic canines
Temporal behavior of seizures and interictal bursts in prolonged intracranial recordings from epileptic canines Open
Summary Objective Epilepsy is a chronic disorder, but seizure recordings are usually obtained in the acute setting. The chronic behavior of seizures and the interictal bursts that sometimes initiate them is unknown. We investigate the vari…
View article: Diffusion tensor imaging analysis of the brain in the canine model of Krabbe disease
Diffusion tensor imaging analysis of the brain in the canine model of Krabbe disease Open
Purpose The goal of this study was to compare the diffusion tensor imaging (DTI) metrics from an end-stage canine Krabbe brain evaluated by MR imaging ex vivo to those of a normal dog brain. We hypothesized that the white matter of the can…
View article: Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (<scp>K</scp>rabbe's disease)
Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (<span>K</span>rabbe's disease) Open
Globoid cell leukodystrophy (GLD), or Krabbe's disease, is a debilitating and always fatal pediatric neurodegenerative disease caused by a mutation in the gene encoding the hydrolytic enzyme galactosylceramidase (GALC). In the absence of G…