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Article ; Online: Therapeutic approaches for Duchenne muscular dystrophy.

Roberts, Thomas C / Wood, Matthew J A / Davies, Kay E

2023 Volume 22, Issue 11, Page(s) 917–934

Abstract: Duchenne muscular dystrophy (DMD) is a monogenic muscle-wasting disorder and a priority candidate for molecular and cellular therapeutics. Although rare, it is the most common inherited myopathy affecting children and so has been the focus of intense ... ...

Abstract	Duchenne muscular dystrophy (DMD) is a monogenic muscle-wasting disorder and a priority candidate for molecular and cellular therapeutics. Although rare, it is the most common inherited myopathy affecting children and so has been the focus of intense research activity. It is caused by mutations that disrupt production of the dystrophin protein, and a plethora of drug development approaches are under way that aim to restore dystrophin function, including exon skipping, stop codon readthrough, gene replacement, cell therapy and gene editing. These efforts have led to the clinical approval of four exon skipping antisense oligonucleotides, one stop codon readthrough drug and one gene therapy product, with other approvals likely soon. Here, we discuss the latest therapeutic strategies that are under development and being deployed to treat DMD. Lessons from these drug development programmes are likely to have a major impact on the DMD field, but also on molecular and cellular medicine more generally. Thus, DMD is a pioneer disease at the forefront of future drug discovery efforts, with these experimental treatments paving the way for therapies using similar mechanisms of action being developed for other genetic diseases.
MeSH term(s)	Child ; Humans ; Muscular Dystrophy, Duchenne/drug therapy ; Muscular Dystrophy, Duchenne/genetics ; Dystrophin/genetics ; Codon, Terminator ; Oligonucleotides, Antisense/therapeutic use ; Oligonucleotides, Antisense/genetics ; Mutation
Chemical Substances	Dystrophin ; Codon, Terminator ; Oligonucleotides, Antisense
Language	English
Publishing date	2023-08-31
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2062954-0
ISSN	1474-1784 ; 1474-1776
ISSN (online)	1474-1784
ISSN	1474-1776
DOI	10.1038/s41573-023-00775-6
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Zs.A 5564: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases.

Aoki, Yoshitsugu / Wood, Matthew J A

Journal of neuromuscular diseases

2021 Volume 8, Issue 6, Page(s) 869–884

Abstract: Research and drug development concerning rare diseases are at the cutting edge of scientific technology. To date, over 7,000 rare diseases have been identified. Despite their individual rarity, 1 in 10 individuals worldwide is affected by a rare ... ...

Abstract	Research and drug development concerning rare diseases are at the cutting edge of scientific technology. To date, over 7,000 rare diseases have been identified. Despite their individual rarity, 1 in 10 individuals worldwide is affected by a rare condition. For the majority of these diseases, there is no treatment, much less cure; therefore, there is an urgent need for new therapies to extend and improve quality of life for persons who suffer from them. Here we focus specifically on rare neuromuscular diseases. Currently, genetic medicines using short antisense oligonucleotides (ASO) or small interfering ribonucleic acids that target RNA transcripts are achieving spectacular success in treating these diseases. For Duchenne muscular dystrophy (DMD), the state-of-the-art is an exon skipping therapy using an antisense oligonucleotide, which is prototypical of advanced precision medicines. Very recently, golodirsen and viltolarsen, for treatment of DMD patients amenable to skipping exon 53, have been approved by regulatory agencies in the USA and Japan, respectively. Here, we review scientific and clinical progress in developing new oligonucleotide therapeutics for selected rare neuromuscular diseases, discussing their efficacy and limitations.
MeSH term(s)	Female ; Genetic Therapy ; Humans ; Male ; Muscular Dystrophy, Duchenne/drug therapy ; Neuromuscular Diseases/drug therapy ; Oligonucleotides/therapeutic use ; Oligonucleotides, Antisense/therapeutic use ; Quality of Life ; Rare Diseases/drug therapy
Chemical Substances	Oligonucleotides ; Oligonucleotides, Antisense ; golodirsen (033072U4MZ) ; viltolarsen (SXA7YP6EKX)
Language	English
Publishing date	2021-06-07
Publishing country	Netherlands
Document type	Journal Article ; Review
ISSN	2214-3602
ISSN (online)	2214-3602
DOI	10.3233/JND-200560
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: RNase-H-mediated silencing in the CNS proves predictably nontrivial.

Moazami, Michael P / Wood, Matthew J A

Med (New York, N.Y.)

2022 Volume 3, Issue 11, Page(s) 733–734

Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease primarily affecting motor neurons. Recently, ...

Abstract	Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease primarily affecting motor neurons. Recently,
MeSH term(s)	Humans ; Amyotrophic Lateral Sclerosis/genetics ; Ribonuclease H ; Neurodegenerative Diseases ; Superoxide Dismutase-1/genetics ; Superoxide Dismutase ; Oligonucleotides, Antisense/therapeutic use
Chemical Substances	Ribonuclease H (EC 3.1.26.4) ; Superoxide Dismutase-1 (EC 1.15.1.1) ; Superoxide Dismutase (EC 1.15.1.1) ; Oligonucleotides, Antisense
Language	English
Publishing date	2022-11-12
Publishing country	United States
Document type	Journal Article ; Comment
ISSN	2666-6340
ISSN (online)	2666-6340
DOI	10.1016/j.medj.2022.10.004
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Article ; Online: Distal femoral replacement for the treatment of periprosthetic distal femoral fractures around a total knee arthroplasty: a meta-analysis.

Wood, Matthew J / Al-Jabri, Talal / Stelzhammer, Thomas / Brivio, Angela / Donaldson, James / Skinner, John A / Barrett, David

Orthopedic reviews

2024 Volume 16, Page(s) 94574

Abstract: Background: Periprosthetic fracture is a rare complication of arthroplasty but can have devastating consequences for the patient and presents a complex surgical challenge. Locking compression plate and retrograde intramedullary nail are both widely ... ...

Abstract	Background: Periprosthetic fracture is a rare complication of arthroplasty but can have devastating consequences for the patient and presents a complex surgical challenge. Locking compression plate and retrograde intramedullary nail are both widely accepted surgical fixation techniques for distal femoral periprosthetic fractures around a total knee arthroplasty. Although there is still a need for further high-quality research into both techniques, there is even less literature concerning the use of distal femoral replacement to treat distal femoral periprosthetic fractures. Interest has been piqued in distal femoral replacements for the treatment of distal femoral periprosthetic fractures due to the theoretical advantages of immediate post-operative weight-bearing and lack of dependence on fracture union, but there are still understandably reservations about performing such an extensive and invasive procedure when an accepted alternative is available. This meta-analysis aims to evaluate the current literature to compare the complication rates and return to pre-operative ambulatory status of distal femoral replacement and locking compression plate. Method: A literature search was performed to identify articles related to the management of distal femoral periprosthetic fractures around a total knee arthroplasty in adherence to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist. Methodological quality was assessed using the methodological index for non-randomized studies (MINORS) criteria. Articles were reviewed, and data extracted for analysis. Results: Five articles met the inclusion criteria, reporting on 345 periprosthetic fractures. The overall rates of complications for distal femoral replacement and locking compression plate were: re-operation (6.1% vs 12.1%), infection (3.0% vs 5.3%), mortality (19.7% vs 19.3%), and return to pre-operative ambulatory status (60.9% vs 71.8%) (respectively). Conclusion: This meta-analysis shows no statistically significant difference in the rates of re-operation, infection, mortality or return to pre-operative ambulatory status when comparing distal femoral replacement to locking compression plate.
Language	English
Publishing date	2024-04-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	2508171-8
ISSN	2035-8164 ; 2035-8164
ISSN (online)	2035-8164
ISSN	2035-8164
DOI	10.52965/001c.94574
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Article ; Online: Wrangling RNA: Antisense oligonucleotides for neurological disorders.

Talbot, Kevin / Wood, Matthew J A

Science translational medicine

2019 Volume 11, Issue 511

Abstract: Effective treatment of spinal muscular atrophy with antisense oligonucleotide therapy opens the door to treating other neurological disorders with this approach. ...

Abstract	Effective treatment of spinal muscular atrophy with antisense oligonucleotide therapy opens the door to treating other neurological disorders with this approach.
MeSH term(s)	Animals ; Humans ; Nerve Degeneration/therapy ; Nervous System Diseases/therapy ; Oligonucleotides, Antisense/therapeutic use ; RNA/therapeutic use
Chemical Substances	Oligonucleotides, Antisense ; RNA (63231-63-0)
Language	English
Publishing date	2019-09-25
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2518854-9
ISSN	1946-6242 ; 1946-6234
ISSN (online)	1946-6242
ISSN	1946-6234
DOI	10.1126/scitranslmed.aay2069
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Zs.A 6941: Show issues

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Article ; Online: Investigating Eukaryotic Elongation Factor 2 Kinase/Eukaryotic Translation Elongation Factor 2 Pathway Regulation and Its Role in Protein Synthesis Impairment during Disuse-Induced Skeletal Muscle Atrophy.

Vilchinskaya, Natalia / Lim, Wooi Fang / Belova, Svetlana / Roberts, Thomas C / Wood, Matthew J A / Lomonosova, Yulia

The American journal of pathology

2023 Volume 193, Issue 6, Page(s) 813–828

Abstract: The principal mechanism underlying the reduced rate of protein synthesis in atrophied skeletal muscle is largely unknown. Eukaryotic elongation factor 2 kinase (eEF2k) impairs the ability of eukaryotic translation elongation factor 2 (eEF2) to bind to ... ...

Abstract	The principal mechanism underlying the reduced rate of protein synthesis in atrophied skeletal muscle is largely unknown. Eukaryotic elongation factor 2 kinase (eEF2k) impairs the ability of eukaryotic translation elongation factor 2 (eEF2) to bind to the ribosome via T56 phosphorylation. Perturbations in the eEF2k/eEF2 pathway during various stages of disuse muscle atrophy have been investigated utilizing a rat hind limb suspension (HS) model. Two distinct components of eEF2k/eEF2 pathway misregulation were demonstrated, observing a significant (P < 0.01) increase in eEF2k mRNA expression as early as 1-day HS and in eEF2k protein level after 3-day HS. We set out to determine whether eEF2k activation is a Ca
MeSH term(s)	Rats ; Animals ; Elongation Factor 2 Kinase/genetics ; Elongation Factor 2 Kinase/metabolism ; Peptide Elongation Factor 2/genetics ; Peptide Elongation Factor 2/metabolism ; Phosphorylation ; Muscle, Skeletal/metabolism ; Muscular Atrophy/metabolism ; Ribosomal Protein S6 Kinases/metabolism
Chemical Substances	Elongation Factor 2 Kinase (EC 2.7.11.20) ; Peptide Elongation Factor 2 ; Ribosomal Protein S6 Kinases (EC 2.7.11.1)
Language	English
Publishing date	2023-03-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2943-9
ISSN	1525-2191 ; 0002-9440
ISSN (online)	1525-2191
ISSN	0002-9440
DOI	10.1016/j.ajpath.2023.02.009
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Ud II Zs.76: Show issues

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ab Jg. 2022: Lesesaal (EG)

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Article ; Online: Tropical forests and global change: biogeochemical responses and opportunities for cross-site comparisons, an organized INSPIRE session at the 108

Cusack, Daniela F / Reed, Sasha / Andersen, Kelly M / Cinoğlu, Damla / Craig, Matthew E / Dietterich, Lee H / Hogan, J Aaron / Holm, Jennifer A / Nottingham, Andrew T / Ostertag, Rebecca / Soper, Fiona M / Wood, Tana E / Wong, Michelle Y

The New phytologist

2024 Volume 241, Issue 5, Page(s) 1922–1926

MeSH term(s)	Forests ; Oregon ; Societies ; Tropical Climate
Language	English
Publishing date	2024-01-17
Publishing country	England
Document type	Congress
ZDB-ID	208885-x
ISSN	1469-8137 ; 0028-646X
ISSN (online)	1469-8137
ISSN	0028-646X
DOI	10.1111/nph.19511
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Article ; Online: Molecular correction of Duchenne muscular dystrophy by splice modulation and gene editing.

Hanson, Britt / Wood, Matthew J A / Roberts, Thomas C

RNA biology

2021 Volume 18, Issue 7, Page(s) 1048–1062

Abstract: Duchenne muscular dystrophy (DMD) is a currently incurable X-linked neuromuscular disorder, characterized by progressive muscle wasting and premature death, typically as a consequence of cardiac failure. DMD-causing mutations in the dystrophin gene are ... ...

Abstract	Duchenne muscular dystrophy (DMD) is a currently incurable X-linked neuromuscular disorder, characterized by progressive muscle wasting and premature death, typically as a consequence of cardiac failure. DMD-causing mutations in the dystrophin gene are highly diverse, meaning that the development of a universally-applicable therapy to treat all patients is very challenging. The leading therapeutic strategy for DMD is antisense oligonucleotide-mediated splice modulation, whereby one or more specific exons are excluded from the mature dystrophin mRNA in order to correct the translation reading frame. Indeed, three exon skipping oligonucleotides have received FDA approval for use in DMD patients. Second-generation exon skipping drugs (i.e. peptide-antisense oligonucleotide conjugates) exhibit enhanced potency, and also induce dystrophin restoration in the heart. Similarly, multiple additional antisense oligonucleotide drugs targeting various exons are in clinical development in order to treat a greater proportion of DMD patient mutations. Relatively recent advances in the field of genome engineering (specifically, the development of the CRISPR/Cas system) have provided multiple promising therapeutic approaches for the RNA-directed genetic correction of DMD, including exon excision, exon reframing via the introduction of insertion/deletion mutations, disruption of splice signals to promote exon skipping, and the templated correction of point mutations by seamless homology directed repair or base editing technology. Potential limitations to the clinical translation of the splice modulation and gene editing approaches are discussed, including drug delivery, the importance of uniform dystrophin expression in corrected myofibres, safety issues (e.g. renal toxicity, viral vector immunogenicity, and off-target gene editing), and the high cost of therapy.
MeSH term(s)	Animals ; CRISPR-Cas Systems ; Dystrophin/deficiency ; Dystrophin/genetics ; Exons ; Gene Editing/methods ; Genetic Therapy/methods ; Humans ; Mice ; Mice, Inbred mdx ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/metabolism ; Muscular Dystrophy, Duchenne/pathology ; Muscular Dystrophy, Duchenne/therapy ; Mutation ; Myocardium/metabolism ; Myocardium/pathology ; Neuromuscular Agents/therapeutic use ; Oligonucleotides, Antisense/genetics ; Oligonucleotides, Antisense/metabolism ; Oligonucleotides, Antisense/therapeutic use ; RNA Splicing
Chemical Substances	DMD protein, human ; Dystrophin ; Neuromuscular Agents ; Oligonucleotides, Antisense
Language	English
Publishing date	2021-01-20
Publishing country	United States
Document type	Journal Article ; Review
ISSN	1555-8584
ISSN (online)	1555-8584
DOI	10.1080/15476286.2021.1874161
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Article ; Online: Modulation of Pro-Inflammatory IL-6 Trans-Signaling Axis by Splice Switching Oligonucleotides as a Therapeutic Modality in Inflammation.

Gupta, Dhanu / Orehek, Sara / Turunen, Janne / O'Donovan, Liz / Gait, Michael J / El-Andaloussi, Samir / Wood, Matthew J A

Cells

2023 Volume 12, Issue 18

Abstract: Interleukin-6 (IL-6) is a pleiotropic cytokine that plays a crucial role in maintaining normal homeostatic processes under the pathogenesis of various inflammatory and autoimmune diseases. This context-dependent effect from a cytokine is due to two ... ...

Abstract	Interleukin-6 (IL-6) is a pleiotropic cytokine that plays a crucial role in maintaining normal homeostatic processes under the pathogenesis of various inflammatory and autoimmune diseases. This context-dependent effect from a cytokine is due to two distinctive forms of signaling:
MeSH term(s)	Animals ; Mice ; Interleukin-6 ; Cytokine Receptor gp130 ; Cytokines ; Inflammation ; Oligonucleotides
Chemical Substances	Interleukin-6 ; Cytokine Receptor gp130 (133483-10-0) ; Cytokines ; Oligonucleotides
Language	English
Publishing date	2023-09-15
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells12182285
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Article: Testicular cancer survivorship: Long-term toxicity and management.

Shrem, Noa Shani / Wood, Lori / Hamilton, Robert J / Kuhathaas, Kopika / Czaykowski, Piotr / Roberts, Matthew / Matthew, Andrew / Izard, Jason P / Chung, Peter / Nappi, Lucia / Jones, Jennifer / Soulières, Denis / Aprikian, Armen / Power, Nicholas / Canil, Christina

Canadian Urological Association journal = Journal de l'Association des urologues du Canada

2022 Volume 16, Issue 8, Page(s) 257–272

Language	English
Publishing date	2022-07-26
Publishing country	Canada
Document type	Journal Article ; Review
ZDB-ID	2431403-1
ISSN	1911-6470
ISSN	1911-6470
DOI	10.5489/cuaj.8009
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