Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

Karen Anthony; Virginia Arechavala-Gomeza; Valeria Ricotti; Silvia Torelli; Lucy Feng; Narinder Janghra; Giorgio Tasca; Michela Guglieri; Rita Barresi; Annarita Armaroli; Alessandra Ferlini; Katherine Bushby; Volker Straub; Enzo Ricci; Caroline Sewry; Jennifer Morgan; Francesco Muntoni

doi:10.1001/jamaneurol.2013.4908

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

Karen Anthony, Virginia Arechavala-Gomeza, Valeria Ricotti, Silvia Torelli, Lucy Feng, Narinder Janghra, Giorgio Tasca, Michela Guglieri, Rita Barresi, Annarita Armaroli, Alessandra Ferlini, Katherine Bushby, Volker Straub, Enzo Ricci, Caroline Sewry, Jennifer Morgan, Francesco Muntoni

Risultato della ricerca: Contributo in rivista › Articolo in rivista

40 Citazioni (Scopus)

Abstract

In Duchenne muscular dystrophy (DMD), the reading frame of an out-of-frame DMD deletion can be repaired by antisense oligonucleotide (AO)-mediated exon skipping. This creates a shorter dystrophin protein, similar to those expressed in the milder Becker muscular dystrophy (BMD). The skipping of some exons may be more efficacious than others. Patients with exon 44 or 45 skippable deletions (AOs in clinical development) have a less predictable phenotype than those skippable for exon 51, a group in advanced clinical trials. A way to predict the potential of AOs is the study of patients with BMD who have deletions that naturally mimic those that would be achieved by exon skipping.

Lingua originale	English
pagine (da-a)	32-40
Numero di pagine	9
Rivista	JAMA Neurology
Volume	71
DOI	https://doi.org/10.1001/jamaneurol.2013.4908
Stato di pubblicazione	Pubblicato - 2014

Keywords

Adolescent
Adult
Biological Markers
Child
Child, Preschool
Dystrophin
Exons
Humans
Male
Muscle, Skeletal
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Oligonucleotides, Antisense
Phenotype
RNA, Messenger
Retrospective Studies
Sequence Deletion
Young Adult

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10.1001/jamaneurol.2013.4908

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Anthony, K., Arechavala-Gomeza, V., Ricotti, V., Torelli, S., Feng, L., Janghra, N., Tasca, G., Guglieri, M., Barresi, R., Armaroli, A., Ferlini, A., Bushby, K., Straub, V., Ricci, E., Sewry, C., Morgan, J., & Muntoni, F. (2014). Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. JAMA Neurology, 71, 32-40. https://doi.org/10.1001/jamaneurol.2013.4908

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title = "Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping",

abstract = "In Duchenne muscular dystrophy (DMD), the reading frame of an out-of-frame DMD deletion can be repaired by antisense oligonucleotide (AO)-mediated exon skipping. This creates a shorter dystrophin protein, similar to those expressed in the milder Becker muscular dystrophy (BMD). The skipping of some exons may be more efficacious than others. Patients with exon 44 or 45 skippable deletions (AOs in clinical development) have a less predictable phenotype than those skippable for exon 51, a group in advanced clinical trials. A way to predict the potential of AOs is the study of patients with BMD who have deletions that naturally mimic those that would be achieved by exon skipping.",

keywords = "Adolescent, Adult, Biological Markers, Child, Child, Preschool, Dystrophin, Exons, Humans, Male, Muscle, Skeletal, Muscular Dystrophies, Muscular Dystrophy, Duchenne, Oligonucleotides, Antisense, Phenotype, RNA, Messenger, Retrospective Studies, Sequence Deletion, Young Adult, Adolescent, Adult, Biological Markers, Child, Child, Preschool, Dystrophin, Exons, Humans, Male, Muscle, Skeletal, Muscular Dystrophies, Muscular Dystrophy, Duchenne, Oligonucleotides, Antisense, Phenotype, RNA, Messenger, Retrospective Studies, Sequence Deletion, Young Adult",

author = "Karen Anthony and Virginia Arechavala-Gomeza and Valeria Ricotti and Silvia Torelli and Lucy Feng and Narinder Janghra and Giorgio Tasca and Michela Guglieri and Rita Barresi and Annarita Armaroli and Alessandra Ferlini and Katherine Bushby and Volker Straub and Enzo Ricci and Caroline Sewry and Jennifer Morgan and Francesco Muntoni",

year = "2014",

doi = "10.1001/jamaneurol.2013.4908",

language = "English",

volume = "71",

pages = "32--40",

journal = "JAMA Neurology",

issn = "2168-6149",

publisher = "American Medical Association",

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Anthony, K, Arechavala-Gomeza, V, Ricotti, V, Torelli, S, Feng, L, Janghra, N, Tasca, G, Guglieri, M, Barresi, R, Armaroli, A, Ferlini, A, Bushby, K, Straub, V, Ricci, E, Sewry, C, Morgan, J & Muntoni, F 2014, 'Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping', JAMA Neurology, vol. 71, pagg. 32-40. https://doi.org/10.1001/jamaneurol.2013.4908

TY - JOUR

T1 - Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

AU - Anthony, Karen

AU - Arechavala-Gomeza, Virginia

AU - Ricotti, Valeria

AU - Torelli, Silvia

AU - Feng, Lucy

AU - Janghra, Narinder

AU - Tasca, Giorgio

AU - Guglieri, Michela

AU - Barresi, Rita

AU - Armaroli, Annarita

AU - Ferlini, Alessandra

AU - Bushby, Katherine

AU - Straub, Volker

AU - Ricci, Enzo

AU - Sewry, Caroline

AU - Morgan, Jennifer

AU - Muntoni, Francesco

PY - 2014

Y1 - 2014

N2 - In Duchenne muscular dystrophy (DMD), the reading frame of an out-of-frame DMD deletion can be repaired by antisense oligonucleotide (AO)-mediated exon skipping. This creates a shorter dystrophin protein, similar to those expressed in the milder Becker muscular dystrophy (BMD). The skipping of some exons may be more efficacious than others. Patients with exon 44 or 45 skippable deletions (AOs in clinical development) have a less predictable phenotype than those skippable for exon 51, a group in advanced clinical trials. A way to predict the potential of AOs is the study of patients with BMD who have deletions that naturally mimic those that would be achieved by exon skipping.

AB - In Duchenne muscular dystrophy (DMD), the reading frame of an out-of-frame DMD deletion can be repaired by antisense oligonucleotide (AO)-mediated exon skipping. This creates a shorter dystrophin protein, similar to those expressed in the milder Becker muscular dystrophy (BMD). The skipping of some exons may be more efficacious than others. Patients with exon 44 or 45 skippable deletions (AOs in clinical development) have a less predictable phenotype than those skippable for exon 51, a group in advanced clinical trials. A way to predict the potential of AOs is the study of patients with BMD who have deletions that naturally mimic those that would be achieved by exon skipping.

KW - Adolescent

KW - Adult

KW - Biological Markers

KW - Child

KW - Child, Preschool

KW - Dystrophin

KW - Exons

KW - Humans

KW - Male

KW - Muscle, Skeletal

KW - Muscular Dystrophies

KW - Muscular Dystrophy, Duchenne

KW - Oligonucleotides, Antisense

KW - Phenotype

KW - RNA, Messenger

KW - Retrospective Studies

KW - Sequence Deletion

KW - Young Adult

KW - Adolescent

KW - Adult

KW - Biological Markers

KW - Child

KW - Child, Preschool

KW - Dystrophin

KW - Exons

KW - Humans

KW - Male

KW - Muscle, Skeletal

KW - Muscular Dystrophies

KW - Muscular Dystrophy, Duchenne

KW - Oligonucleotides, Antisense

KW - Phenotype

KW - RNA, Messenger

KW - Retrospective Studies

KW - Sequence Deletion

KW - Young Adult

UR - http://hdl.handle.net/10807/60863

U2 - 10.1001/jamaneurol.2013.4908

DO - 10.1001/jamaneurol.2013.4908

M3 - Article

SN - 2168-6149

VL - 71

SP - 32

EP - 40

JO - JAMA Neurology

JF - JAMA Neurology

ER -

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

Abstract

Keywords

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