4.6 Article

Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders

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。
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 Biotechnology & Applied Microbiology

Clinical Applications of Single-Stranded Oligonucleotides: Current Landscape of Approved and In-Development Therapeutics

Juergen Scharner et al.

Summary: Single-stranded oligonucleotides have been explored as a therapeutic modality for over 20 years, but only in the last 5 years have they become a preferred modality in precision medicine and targeted therapeutics. They have been used to treat a range of diseases from neurological to muscular to metabolic, showcasing their versatility as a robust therapeutic platform.

MOLECULAR THERAPY (2021)

Editorial Material Biotechnology & Applied Microbiology

Fourth Boy Dies in Clinical Trial of Astellas' AT132

Alex Philippidis

HUMAN GENE THERAPY (2021)

Article Clinical Neurology

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Eugenio Mercuri et al.

Summary: The STR1VE-EU study evaluated the safety and efficacy of onasemnogene abeparvovec gene replacement therapy in infants with spinal muscular atrophy type 1, showing effectiveness in symptomatic patients and a favorable benefit-risk profile for this patient population. Further long-term safety studies are needed.

LANCET NEUROLOGY (2021)

Article Biochemistry & Molecular Biology

Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue

Gretchen Thomsen et al.

Summary: Biodistribution analysis of two patients with spinal muscular atrophy shows widespread onasemnogene abeparvovec DNA, mRNA and SMN protein throughout the central nervous system and peripheral organs following intravenous gene therapy administration. Both patients experienced varying outcomes after receiving the treatment, including improved motor function in one patient and death in the other shortly after administration. The study demonstrates effective distribution, transduction, and expression of onasemnogene abeparvovec throughout the CNS, supporting its potential for restoring SMN expression in individuals with SMA1.

NATURE MEDICINE (2021)

Review Medicine, Research & Experimental

Delivery of oligonucleotide-based therapeutics: challenges and opportunities

Suzan M. Hammond et al.

Summary: The field of nucleic acid-based therapeutics has seen rapid development in recent years, with the main challenge being delivery to target tissues. The adoption of delivery technologies, such as conjugates or nanoparticles, has been a game changer for many therapeutic indications.

EMBO MOLECULAR MEDICINE (2021)

Article Clinical Neurology

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

John W. Day et al.

Summary: The study evaluated the safety and efficacy of onasemnogene abeparvovec gene therapy in symptomatic patients with infantile-onset spinal muscular atrophy. Results showed that patients achieved independent sitting and survival rates without permanent ventilation at certain time points, with a favorable benefit-risk profile supporting the use of onasemnogene abeparvovec for treatment of this condition.

LANCET NEUROLOGY (2021)

Review Biotechnology & Applied Microbiology

Gene therapy for ALS: A review

Defne A. Amado et al.

Summary: ALS has historically been challenging for gene therapy due to a lack of therapeutic targets and difficulty accessing the brain and spinal cord. Recent advances in disease mechanism understanding, ALS genetics, and CNS targeting, along with progress in gene delivery and editing techniques, have opened new therapeutic possibilities. Gene therapy clinical trials are underway for ALS patients with various genetic mutations, showing potential for disease-modifying treatment.

MOLECULAR THERAPY (2021)

News Item Multidisciplinary Sciences

GENETIC THERAPIES FOR HUNTINGTON'S DISEASE FAIL IN CLINICAL TRIALS

Diana Kwon

NATURE (2021)

News Item Biotechnology & Applied Microbiology

Double setback for ASO trials in Huntington disease

Katie Kingwell

NATURE REVIEWS DRUG DISCOVERY (2021)

Article Biotechnology & Applied Microbiology

Cholesterol-functionalized DNA/RNA heteroduplexes cross the blood-brain barrier and knock down genes in the rodent CNS

Tetsuya Nagata et al.

Summary: This study demonstrates that DNA/RNA heteroduplex oligonucleotides (HDOs) conjugated to cholesterol or alpha-tocopherol can regulate endogenous gene expression in the central nervous system when administered systemically, with limited side effects. The HDOs effectively distribute throughout the CNS and suppress the expression of target genes by up to 90%, showing potential for ASO-based therapies for neurological diseases.

NATURE BIOTECHNOLOGY (2021)

Review Nanoscience & Nanotechnology

The current landscape of nucleic acid therapeutics

Jayesh A. Kulkarni et al.

Summary: The increasing number of approved nucleic acid therapeutics demonstrates their potential for long-lasting or curative effects by targeting genetic blueprints; however, their clinical translation relies on advances in delivery technologies. Four platform technologies, including antisense oligonucleotides, small interfering RNA conjugates, lipid nanoparticles, and adeno-associated virus vectors, have enabled the clinical translation of nucleic acid therapeutics, leading to the approval of cutting-edge genetic drugs.

NATURE NANOTECHNOLOGY (2021)

Review Neurosciences

Gene Therapy for Neurodegenerative Disease: Clinical Potential and Directions

Xiaolin Zhu et al.

Summary: The development of gene editing techniques has facilitated a deeper understanding of neurodegenerative diseases, providing important tools for new treatment strategies and the construction of effective models.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2021)

Article Medicine, Research & Experimental

Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS

Tomoki Hirunagi et al.

Summary: Research shows that UNA-modified CAG-siRNA can selectively suppress polyglutamine-expanded androgen receptor, successfully treating mutant proteins in an SBMA mouse model. Lipid nanoparticle-delivered CAG-siRNA also demonstrates efficient suppression of mutant proteins in the central nervous system and skeletal muscle of the SBMA mouse model.

MOLECULAR THERAPY-NUCLEIC ACIDS (2021)

Article Multidisciplinary Sciences

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity

Wooi F. Lim et al.

Summary: SBMA is a neuromuscular disease caused by a polyQ expansion in AR protein, with recent studies highlighting the importance of mutant AR-altered transcriptional activity. Targeting AR isoform 2 can ameliorate the disease phenotype in SBMA mice by restoring dysregulated transcriptional activity of polyQ AR protein.

SCIENCE ADVANCES (2021)

Review Biotechnology & Applied Microbiology

Clinical development on the frontier: gene therapy for duchenne muscular dystrophy

Damon R. Asher et al.

EXPERT OPINION ON BIOLOGICAL THERAPY (2020)

Article Genetics & Heredity

A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo

Masayuki Nakamori et al.

NATURE GENETICS (2020)

Article Medicine, General & Internal

SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS

Christian Mueller et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

Article Medicine, General & Internal

Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

Timothy Miller et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

Article Multidisciplinary Sciences

Inhibition of DUX4 expression with antisense LNA gapmers as a therapy for facioscapulohumeral muscular dystrophy

Kenji Rowel Q. Lim et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

Review Clinical Neurology

Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)

Atsushi Hashizume et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2020)

Article Medicine, General & Internal

Targeting Huntingtin Expression in Patients with Huntington's Disease

Sarah J. Tabrizi et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

Review Biochemistry & Molecular Biology

Recent advances in molecular therapies for neurological disease: triplet repeat disorders

Pedro Gonzalez-Alegre

HUMAN MOLECULAR GENETICS (2019)

Article Biochemistry & Molecular Biology

Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington's disease

Bryan Zeitler et al.

NATURE MEDICINE (2019)

Article Biotechnology & Applied Microbiology

A divalent siRNA chemical scaffold for potent and sustained modulation of gene expression throughout the central nervous system

Julia F. Alterman et al.

NATURE BIOTECHNOLOGY (2019)

Review Clinical Neurology

Molecular Mechanisms and Therapeutics for SBMA/Kennedy's Disease

Frederick J. Arnold et al.

NEUROTHERAPEUTICS (2019)

Review Biochemical Research Methods

Bioconjugated Oligonucleotides: Recent Developments and Therapeutic Applications

Sebastien Benizri et al.

BIOCONJUGATE CHEMISTRY (2019)

Article Medicine, General & Internal

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

E. Mercuri et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Article Pathology

Polyglutamine Repeats in Neurodegenerative Diseases

Andrew P. Lieberman et al.

Annual Review of Pathology-Mechanisms of Disease (2018)

Review Clinical Neurology

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

Zhang-Yu Zou et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2017)

Article Medicine, General & Internal

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

J. R. Mendell et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Article Medicine, General & Internal

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

R. S. Finkel et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Article Multidisciplinary Sciences

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Hichem Tasfaout et al.

NATURE COMMUNICATIONS (2017)

Editorial Material Biochemistry & Molecular Biology

FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga

Annemieke Aartsma-Rus et al.

NUCLEIC ACID THERAPEUTICS (2017)

Article Chemistry, Multidisciplinary

Development of antibody-siRNA conjugate targeted to cardiac and skeletal muscles

Tsukasa Sugo et al.

JOURNAL OF CONTROLLED RELEASE (2016)

Editorial Material Biotechnology & Applied Microbiology

Eteplirsen Approved for Duchenne Muscular Dystrophy: The FDA Faces a Difficult Choice

Cy A. Stein

MOLECULAR THERAPY (2016)

Article Biotechnology & Applied Microbiology

MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy

Naemeh Pourshafie et al.

MOLECULAR THERAPY (2016)

Article Biochemistry & Molecular Biology

Silencing neuronal mutant androgen receptor in a mouse model of spinal and bulbar muscular atrophy

Kentaro Sahashi et al.

HUMAN MOLECULAR GENETICS (2015)

Article Biochemistry & Molecular Biology

Oligonucleotide-based strategies to combat polyglutamine diseases

Agnieszka Fiszer et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Biochemistry & Molecular Biology

Viral delivery of miR-196a ameliorates the SBMA phenotype via the silencing of CELF2

Yu Miyazaki et al.

NATURE MEDICINE (2012)

Article Biochemistry & Molecular Biology

Allele-Selective Inhibition of Huntingtin Expression by Switching to an miRNA-like RNAi Mechanism

Jiaxin Hu et al.

CHEMISTRY & BIOLOGY (2010)

Article Biotechnology & Applied Microbiology

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

Kevin D. Foust et al.

NATURE BIOTECHNOLOGY (2010)

Article Biotechnology & Applied Microbiology

Rational Design of Antisense Oligomers to Induce Dystrophin Exon Skipping

Chalermchai Mitrpant et al.

MOLECULAR THERAPY (2009)

Article Multidisciplinary Sciences

Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease

Douglas Ashley Monks et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)