4.8 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biotechnology & Applied Microbiology

A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II

Torayuki Okuyama et al.

Summary: The study demonstrated that pabinafusp alfa is a potentially effective treatment for both the central and peripheral symptoms of MPS-II patients, with the ability to cross the blood-brain barrier to reach the central nervous system. In the 52-week clinical trial, the drug showed relatively good efficacy and safety profiles.

MOLECULAR THERAPY (2021)

Article Clinical Neurology

Spinal manifestations of CLN1 disease start during the early postnatal period

H. R. Nelvagal et al.

Summary: This study investigated the early pathology of CLN1 disease in the spinal cord of Ppt1-deficient mice, revealing significant microglial activation at 1 month, followed by astrocytosis and other changes at 2 months, and accumulation of storage material and lymphocyte infiltration at 3 months. Inflammatory cytokine expression was altered as early as one month. Behavioral abnormalities were observed at 2 months before a decline in overall locomotor performance. Early onset of the disease 2 months earlier than expected indicates the need for therapies during the presymptomatic period.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2021)

Review Biotechnology & Applied Microbiology

Current Clinical Applications of In Vivo Gene Therapy with AAVs

Jerry R. Mendell et al.

Summary: Hereditary diseases are caused by gene mutations, affecting millions of Americans, and gene therapy using adeno-associated virus (AAV) has shown promise in treating these diseases. Five treatments have been approved for commercialization, with many more in clinical trials, showcasing the potential of gene therapy in treating a wide range of genetic disorders.

MOLECULAR THERAPY (2021)

Review Clinical Neurology

The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses

Emily Gardner et al.

Summary: Neuronal ceroid lipofuscinoses are a group of inherited neurodegenerative disorders affecting children and adults, sharing similar clinical features and accumulation of storage material. Over 530 mutations have been identified in 13 genes, encoding various proteins including lysosomal enzymes. While many mutations are associated with typical disease phenotypes, there is an increasing description of variant disease phenotypes.

FRONTIERS IN NEUROLOGY (2021)

Article Clinical Neurology

Management of CLN1 Disease: International Clinical Consensus

Erika F. Augustine et al.

Summary: CLN1 disease is a rare genetic disorder caused by PPT1 enzyme deficiency, leading to symptoms such as developmental delay, psychomotor regression, seizures, movement disorders, visual impairment, and early death. Current evidence for treatment is limited, emphasizing the importance of a family-centered approach and individualized multidisciplinary care to optimize patient and family quality of life.

PEDIATRIC NEUROLOGY (2021)

Review Pharmacology & Pharmacy

Gene therapy for neurological disorders: challenges and recent advancements

Stefanie A. Pena et al.

JOURNAL OF DRUG TARGETING (2020)

Review Neurosciences

Peroxisomal Dysfunction in Neurological Diseases and Brain Aging

Ndidi-Ese Uzor et al.

FRONTIERS IN CELLULAR NEUROSCIENCE (2020)

Review Biochemistry & Molecular Biology

CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges

Mariola J. Edelmann et al.

FRONTIERS IN MOLECULAR BIOSCIENCES (2020)

Article Clinical Neurology

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

Alfried Kohlschuetter et al.

CNS DRUGS (2019)

Review Neurosciences

Mitochondrial dysfunction in neurodegenerative diseases and the potential countermeasure

Yan Wang et al.

CNS NEUROSCIENCE & THERAPEUTICS (2019)

Review Clinical Neurology

Therapeutic landscape for Batten disease: current treatments and future prospects

Tyler B. Johnson et al.

NATURE REVIEWS NEUROLOGY (2019)

Article Biotechnology & Applied Microbiology

Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease

Nadia L. Mitchell et al.

MOLECULAR THERAPY (2018)

Article Medicine, General & Internal

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

Angela Schulz et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Article Neurosciences

Computation of a High-Resolution MRI 3D Stereotaxic Atlas of the Sheep Brain

Arsene Ella et al.

JOURNAL OF COMPARATIVE NEUROLOGY (2017)

Article Multidisciplinary Sciences

Synergistic effects of treating the spinal cord and brain in CLN1 disease

Charles Shyng et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Medicine, Research & Experimental

Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy

Lin Liu et al.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2017)

Article Agriculture, Dairy & Animal Science

Manifestation of neuronal ceroid lipofuscinosis in Australian Merino sheep: Observations on altered behaviour and growth

Greg M. Cronin et al.

APPLIED ANIMAL BEHAVIOUR SCIENCE (2016)

Article Endocrinology & Metabolism

Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis

Brian R. Vuillemenot et al.

MOLECULAR GENETICS AND METABOLISM (2015)

Review Clinical Neurology

Gene Therapy for the Nervous System: Challenges and New Strategies

Casey A. Maguire et al.

NEUROTHERAPEUTICS (2014)

Review Biochemistry & Molecular Biology

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses

Varun Warrier et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2013)

Article Clinical Neurology

Regional Brain Atrophy in Mouse Models of Neuronal Ceroid Lipofuscinosis: A New Rostrocaudal Perspective

Thomas G. Kuehl et al.

JOURNAL OF CHILD NEUROLOGY (2013)

Article Endocrinology & Metabolism

Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis

Brian R. Vuillemenot et al.

MOLECULAR GENETICS AND METABOLISM (2011)

Article Neurosciences

Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse

Shannon L. Macauley et al.

EXPERIMENTAL NEUROLOGY (2009)

Review Biotechnology & Applied Microbiology

Gene therapy for lysosomal storage diseases

Mark S. Sands et al.

MOLECULAR THERAPY (2006)

Article Biotechnology & Applied Microbiology

AAV2-Mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis

M Griffey et al.

MOLECULAR THERAPY (2005)

Article Multidisciplinary Sciences

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice

P Gupta et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)