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Your search keyword '"Nigel G. Laing"' showing total 9 results
Start Over Author "Nigel G. Laing" Journal nature communications
9 results on '"Nigel G. Laing"'

1. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author

Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, and Gianina Ravenscroft

Subjects
Science
Abstract

Abstract Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG • CCG repeat expansion in four different genes were identified in OPDM individuals in Asian populations. None of these have been found in affected individuals of non-Asian ancestry. In this study we describe the identification of CCG expansions in ABCD3, ranging from 118 to 694 repeats, in 35 affected individuals across eight unrelated OPDM families of European ancestry. ABCD3 transcript appears upregulated in fibroblasts and skeletal muscle from OPDM individuals, suggesting a potential role of over-expression of CCG repeat containing ABCD3 transcript in progressive skeletal muscle degeneration. The study provides further evidence of the role of non-coding repeat expansions in unsolved neuromuscular diseases and strengthens the association between the CGG • CCG repeat motif and a specific pattern of muscle weakness.

Published
2024
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2. Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author

Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, and Gianina Ravenscroft

Subjects
Science
Published
2024
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3. Haploinsufficiency of SF3B2 causes craniofacial microsomia

Author

Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, and Daniela V. Luquetti

Subjects
Science
Abstract

Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF3B2 as a prevalent underlying cause.

Published
2021
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4. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Author

Paige B. Martin, Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa A. Faqeih, Naif A. M. Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E. Posey, Monique Ryan, James R. Lupski, Nigel G. Laing, Claudio A. P. Joazeiro, and Gregory A. Cox

Subjects
Science
Abstract

Defective protein quality control is a key feature of neurodegeneration. Here, the authors show that mutations in Nemf/NEMF, a component of the Ribosome-associated Quality Control complex, have a neurodegenerative effect in mice and may underlie neuromuscular disease in seven unrelated families.

Published
2020
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5. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Author

Montse Olivé, Martin Engvall, Gianina Ravenscroft, Macarena Cabrera-Serrano, Hong Jiao, Carlo Augusto Bortolotti, Marcello Pignataro, Matteo Lambrughi, Haibo Jiang, Alistair R. R. Forrest, Núria Benseny-Cases, Stefan Hofbauer, Christian Obinger, Gianantonio Battistuzzi, Marzia Bellei, Marco Borsari, Giulia Di Rocco, Helena M. Viola, Livia C. Hool, Josep Cladera, Kristina Lagerstedt-Robinson, Fengqing Xiang, Anna Wredenberg, Francesc Miralles, Juan José Baiges, Edoardo Malfatti, Norma B. Romero, Nathalie Streichenberger, Christophe Vial, Kristl G. Claeys, Chiara S. M. Straathof, An Goris, Christoph Freyer, Martin Lammens, Guillaume Bassez, Juha Kere, Paula Clemente, Thomas Sejersen, Bjarne Udd, Noemí Vidal, Isidre Ferrer, Lars Edström, Anna Wedell, and Nigel G. Laing

Subjects
Science
Abstract

Myoglobin is a hemeprotein that reversibly binds oxygen and gives muscle its red color. Here, the authors report a genetic variant in the MB gene that associates with myoglobinopathy, an autosomal dominant progressive myopathy, and altered oxygen binding properties of the mutant protein.

Published
2019
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6. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Author

Paige B. Martin, Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa A. Faqeih, Naif A. M. Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E. Posey, Monique Ryan, James R. Lupski, Nigel G. Laing, Claudio A. P. Joazeiro, and Gregory A. Cox

Subjects
Science
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020
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7. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Author

Christopher C. Griffith, Martin Zenker, William E. Allen, Ganka Douglas, Denise Howting, Eissa Faqeih, Roger B. Sher, Davut Pehlivan, Nigel G. Laing, Henry Houlden, Jennifer E. Stauffer, Naif A.M. Almontashiri, Hamid Galehdari, Paige B. Martin, Ryo Yonashiro, Rajesh Kumar, Tamar Harel, Yu Kigoshi-Tansho, Gregory A. Cox, James R. Lupski, Reza Maroofian, Monique M. Ryan, Gianina Ravenscroft, Neda Mazaheri, Jennifer E. Posey, Tina Müller, Claudio A. P. Joazeiro, and Denny Schanze

Subjects
0301 basic medicine, Male, Neuromuscular disease, Saccharomyces cerevisiae Proteins, Science, General Physics and Astronomy, Saccharomyces cerevisiae, Protein degradation, medicine.disease_cause, Ribosome, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, RQC complex, medicine, Animals, Humans, Amino Acid Sequence, Neurodegeneration, Author Correction, lcsh:Science, Mice, Knockout, Mutation, Multidisciplinary, biology, Disease genetics, RNA-Binding Proteins, Translation (biology), General Chemistry, Neuromuscular Diseases, medicine.disease, Cell biology, Ubiquitin ligase, 030104 developmental biology, Mechanisms of disease, Proteolysis, biology.protein, Female, lcsh:Q, Ribosomes, Sequence Alignment, 030217 neurology & neurosurgery
Abstract

A hallmark of neurodegeneration is defective protein quality control. The E3 ligase Listerin (LTN1/Ltn1) acts in a specialized protein quality control pathway—Ribosome-associated Quality Control (RQC)—by mediating proteolytic targeting of incomplete polypeptides produced by ribosome stalling, and Ltn1 mutation leads to neurodegeneration in mice. Whether neurodegeneration results from defective RQC and whether defective RQC contributes to human disease have remained unknown. Here we show that three independently-generated mouse models with mutations in a different component of the RQC complex, NEMF/Rqc2, develop progressive motor neuron degeneration. Equivalent mutations in yeast Rqc2 selectively interfere with its ability to modify aberrant translation products with C-terminal tails which assist with RQC-mediated protein degradation, suggesting a pathomechanism. Finally, we identify NEMF mutations expected to interfere with function in patients from seven families presenting juvenile neuromuscular disease. These uncover NEMF’s role in translational homeostasis in the nervous system and implicate RQC dysfunction in causing neurodegeneration., Defective protein quality control is a key feature of neurodegeneration. Here, the authors show that mutations in Nemf/NEMF, a component of the Ribosome-associated Quality Control complex, have a neurodegenerative effect in mice and may underlie neuromuscular disease in seven unrelated families.

Published
2020

8. Haploinsufficiency of SF3B2 causes craniofacial microsomia

Author

Milagros M. Dueñas-Roque, Casey Griffin, Leanne Magee, Cheryl A Wise, Andrew T. Timberlake, Jennie Slee, Harry Pachajoa, Rhonda E. Schnur, Carrie L. Heike, Jean Pierre Saint-Jeannet, David A. Staffenberg, Natalya Karp, Gloria Liliana Porras-Hurtado, Ignacio Zarante, Steven L. Singer, Jonas A Gustafson, Daniela V Luquetti, Mark R. Davis, Paula Hurtado-Villa, Sureni V Mullegama, Soghra J Doust, David Chitayat, Alexis L. Johns, Anne V. Hing, Amelia F. Drake, Nigel G. Laing, Andrew E. Timms, Michael L. Cunningham, and Jack Goldblatt

Subjects
Proband, Adult, Male, Adolescent, Science, General Physics and Astronomy, Haploinsufficiency, Bioinformatics, Genome informatics, General Biochemistry, Genetics and Molecular Biology, Article, Xenopus laevis, Cranial neural crest, Goldenhar Syndrome, medicine, Animals, Humans, Exome, DNA sequencing, Craniofacial, Child, Genetic Association Studies, Small nuclear ribonucleoprotein complex, Multidisciplinary, business.industry, Microtia, Infant, General Chemistry, medicine.disease, Hypoplasia, Pedigree, Neural Crest, Mutation, Spliceosomes, Female, RNA Splicing Factors, business, Medical genomics
Abstract

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10−10), a component of the U2 small nuclear ribonucleoprotein complex, in probands. We describe twenty individuals from seven kindreds harboring de novo or transmitted haploinsufficient variants in SF3B2. Probands display mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities. Targeted morpholino knockdown of SF3B2 in Xenopus results in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease. The results establish haploinsufficient variants in SF3B2 as the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases., Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF3B2 as a prevalent underlying cause.

Published
2020

9. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Author

Martin Zenker, Eissa Faqeih, Neda Mazaheri, Tamar Harel, Yu Kigoshi-Tansho, James R. Lupski, Nigel G. Laing, Gregory A. Cox, Claudio A. P. Joazeiro, Reza Maroofian, Jennifer E. Posey, Paige B. Martin, Davut Pehlivan, Gianina Ravenscroft, Rajesh Kumar, Tina Müller, Christopher C. Griffith, Denise Howting, Denny Schanze, William E. Allen, Ryo Yonashiro, Ganka Douglas, Henry Houlden, Monique M. Ryan, Hamid Galehdari, Jennifer E. Stauffer, Naif A.M. Almontashiri, and Roger B. Sher

Subjects
Multidisciplinary, Neuromuscular disease, business.industry, media_common.quotation_subject, Science, MEDLINE, General Physics and Astronomy, General Chemistry, medicine.disease, Bioinformatics, Ribosome, General Biochemistry, Genetics and Molecular Biology, Medicine, Quality (business), lcsh:Q, business, lcsh:Science, media_common
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020

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