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Genomes and Genes | N G LaingSummaryAffiliation: University of Western Australia Country: Australia Publications
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Publications
Distal myopathiesFrank L Mastaglia
Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Perth, Western Australia, Australia
Curr Opin Neurol 18:504-10. 2005..This article summarizes the findings of recent clinical, genetic and molecular studies and the current diagnostic approach to this group of patients...- Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindredDavid O Hutchinson
Department of Neurology, Auckland City Hospital, Private Bag, Auckland 92024, New Zealand
Neuromuscul Disord 16:113-21. 2006..Actin is normally present within the nucleus in only trace amounts. Mutation at postion 163 may result in intranuclear rods by virtue of its close proximity to a nuclear export signal within the actin molecule... 
Genetics of neuromuscular disordersNigel G Laing
Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia
Crit Rev Clin Lab Sci 49:33-48. 2012..The aim of this review is to describe molecular diagnosis of genetic neuromuscular disorders in the past, the present and speculate on the future...- Actin mutations are one cause of congenital fibre type disproportionNigel G Laing
Centre for Neuromuscular and Neurological Disorders, University of Western Australia
Ann Neurol 56:689-94. 2004..There were no clinical features specific to CFTD cases with ACTA1 mutations, but the presence of normal eye movements in a severe CFTD patient may be an important clue for the presence of a mutation in ACTA1... - When contractile proteins go bad: the sarcomere and skeletal muscle diseaseNigel G Laing
Centre for Medical Research, University of Western Australia, West Australian Institute for Medical Research, Nedlands, Western Australia, Australia
Bioessays 27:809-22. 2005..The affected patients and families hope for help sooner rather than later. The onus is on all scientists researching sarcomeric proteins to help develop treatments... - Inherited disorders of sarcomeric proteinsN G Laing
Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Nedlands, Australia
Curr Opin Neurol 12:513-8. 1999.... - Inherited skeletal muscle disordersN G Laing
University of Western Australia, QEII Medical Centre, Nedlands, Australia
Ann Hum Biol 26:507-25. 1999..The major challenges for the future are to understand the pathophysiology of the diseases, now that the genes are being identified, and then to develop successful therapies... - More surprises in sarcomeric protein diseasesNigel G Laing
Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, Western Australia, Australia
Brain 130:1453-5. 2007 - Congenital myopathiesNigel G Laing
Centre for Medical Research, University of Western Australia and Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia
Curr Opin Neurol 20:583-9. 2007..The aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research... - Multiplicity of experimental approaches to therapy for genetic muscle diseases and necessity for population screeningNigel G Laing
Centre for Medical Research, Western Australian Institute for Medical Research, QEII Medical Centre, University of Western Australia, B Block, Hovea Lane, Nedlands, Western Australia, 6009, Australia
J Muscle Res Cell Motil 29:247-52. 2008..Population-based newborn screening is currently practised in very few places in the world and it brings with it implications for prevention rather than cure of genetic muscle diseases... 
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)Nigel G Laing
Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, QEII Medical Centre, Western Australia, Australia
Hum Mutat 30:1267-77. 2009..To aid molecular diagnosis and establishing genotype-phenotype correlations, we have developed a locus-specific database for ACTA1 variations (http://waimr.uwa.edu.au)...- Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated casesN G Laing
Centre for Neuromuscular and Neurologic Disorders, Australian Neuromuscular Research Institute and Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, Australia
Neurology 64:527-9. 2005..The authors have identified the arginine 1845 tryptophan mutation found in the Swedish families in two isolated Belgian cases, indicating a critical role for myosin residue arginine 1845... - Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutationS D Wilton
Australian Neuromuscular Research Institute, QE II Medical Centre, Nedlands
Am J Med Genet 46:563-9. 1993..Specific primers to detect the splice-site mutation have been designed and used to genotype all relatives... - Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy familyS D Wilton
Australian Neuromuscular Research Institute, QE II Medical Centre, Nedlands
Hum Mutat 3:133-40. 1994..The application of linked markers to identify the disease allele for conventional genetic counselling would have been erroneous in this family and highlights the diagnostic power of precise identification of the disease-causing mutation... - Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 geneM R Davis
Department of Anatomical Pathology, Royal Perth Hospital, Wellington Street, 6000, Western Australia, Perth, Australia
Neuromuscul Disord 13:151-7. 2003.... - Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathyK J Nowak
Centre for Neuromuscular Disorders, University of Western Australia, Nedlands, Western Australia 6009, Australia
Nat Genet 23:208-12. 1999..We also identified de novo mutations in seven sporadic probands for which it was possible to analyse parental DNA... - De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathyH J Durling
Neurogenetics Laboratory, Royal Perth Hospital, Western Australia, Perth, Australia
Neuromuscul Disord 12:947-51. 2002.... - Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletionK J Nowak
Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia, Perth
Neuromuscul Disord 10:100-7. 2000..The fact that the affected individuals in the current and Gypsy families are gamma-sarcoglycan negative may indicate that codons 69 and 283 are important in gamma-sarcoglycan function... - Snapback SSCP analysis: engineered conformation changes for the rapid typing of known mutationsS D Wilton
Department of Pathology, University of Western Australia, Australian Neuromuscular Research Institute, QE II Medical Centre, Nedlands
Hum Mutat 11:252-8. 1998..This approach could be applied to the routine screening of other known mutations that are not amenable to detection by simple SSCP analysis... - Early onset chromosome 14-linked distal myopathy (Laing)F L Mastaglia
Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Australian Neuromuscular Research Institute, Nedlands, Australia
Neuromuscul Disord 12:350-7. 2002..2-q13. The linkage region has been refined to a 24 cM region between D14S283 and D14S49 and mutations have been excluded in the PABP2 gene for oculopharyngeal muscular dystrophy which lies within this region... - Assignment of the human alpha-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridizationS D Wilton
Australian Neuromuscular Research Institute, QE II Medical Centre, Nedlands, Western Australia, Australia
Cytogenet Cell Genet 72:294-6. 1996..The other, a product from a long-range PCR, was used directly as a probe to refine the localization of TPM4 to 19p13.1 by fluorescence in situ hybridization to metaphase chromosome spreads... - Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathyF L Mastaglia
Australian Neuromuscular Research Institute, Departments of Medicine, University of Western Australia, Department of Medicine, 6009, Australia
J Neurol Neurosurg Psychiatry 67:174-9. 1999..The gene defects in families with intermediate HMSN are not known, but it has been suggested that most have X linked HMSN... - Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisationP A Akkari
Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands
Cytogenet Cell Genet 65:265-7. 1994..Using fluorescence in situ hybridization the localization has been confirmed and the ACTA1 gene precisely mapped to 1q42... - Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathyP Tan
Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands, Western Australia
Neuromuscul Disord 9:573-9. 1999..The patient should have no functioning alpha-tropomyosin slow protein. The nemaline bodies in this patient were exclusively in type one fibres, consistent with the expression of TPM3 only in type one fibres... - A splice-site mutation causing ovine McArdle's diseaseP Tan
Department of Pathology, University of Western Australia, Nedlands, Australia
Neuromuscul Disord 7:336-42. 1997..This eliminated an XbaI site present in normal sheep allowing diagnosis of normal, affected and carrier sheep. This ovine model of McArdle's disease is now available for therapeutic trials... - Assignment of the human a-tropomyosin gene TPM3 to 1q22-->q23 by fluorescence in situ hybridisationS D Wilton
Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands
Cytogenet Cell Genet 68:122-4. 1995..The 1q22-->q23 localization of TPM3 is within the NEM1 locus associated with autosomal dominant nemaline myopathy, making TPM3 a candidate for this disorder... - A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathyN G Laing
Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia
Nat Genet 9:75-9. 1995..The mutation may strengthen tropomyosin - actin binding, leading to rod body formation, by adding a further basic residue to the postulated actin-binding motif... - Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)William Wallefeld
Molecular Neurogenetics Laboratory, Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia
Neuromuscul Disord 16:541-7. 2006..Western blotting of one patient's muscle demonstrated the presence of the larger protein, while expression of one of the other mutant proteins fused to EGFP in C2C12 cells demonstrated the formation of rod bodies... - Four type I equine microsatellites associated with the MITF, KIT, ATP2A1 and GDAP1 genesL M Blechynden
Australian Equine Neuromuscular Research Group, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Nedlands, WA, Australia
Anim Genet 33:387-8. 2002 - Effectiveness of posthumous molecular diagnosis from a kept baby toothHelen Leonard
Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia
Lancet 366:1584. 2005 - Dissociated flexor digitorum brevis myofiber culture system--a more mature muscle culture systemGianina Ravenscroft
Centre for Medical Research, The University of Western Australia, West Australian Institute for Medical Research, Nedlands, Western Australia, Australia
Cell Motil Cytoskeleton 64:727-38. 2007..Moreover, it may be a useful system for screening therapeutic agents for the treatment of skeletal muscle disorders... - Novel application of flow cytometry: determination of muscle fiber types and protein levels in whole murine skeletal muscles and heartConnie Jackaman
Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia 6009, Australia
Cell Motil Cytoskeleton 64:914-25. 2007.... - Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapiesGianina Ravenscroft
Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia
Brain 134:1101-15. 2011..This is the first experimental, as opposed to observational, evidence that mutant protein load determines the severity of ACTA1 disease... - Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actinKristen J Nowak
Centre for Medical Research, School of Biomedical, Biomolecular, and Chemical Sciences, The University of Western Australia, Perth, Western Australia 6009, Australia
J Cell Biol 185:903-15. 2009..This raises the prospect that ACTC reactivation might provide a therapy for ACTA1 diseases. In addition, the mouse model will allow analysis of the precise functional differences between ACTA1 and ACTC... - Nemaline myopathy caused by absence of alpha-skeletal muscle actinKristen J Nowak
Centre for Medical Research, University of Western Australia, Nedlands, Australia, and Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, UK
Ann Neurol 61:175-84. 2007..Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator-dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected... - Dystrophin gene transcripts skipping the mdx mutationS D Wilton
Australian Neuromuscular Research Institute, QE III Medical Centre, Nedlands, Western Australia
Muscle Nerve 20:728-34. 1997..Specific tests for these transcripts demonstrated these were also present in normal mouse muscle tissue... - A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemiaB K Ward
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia
Hum Mutat 10:233-5. 1997 - Expression of cardiac alpha-actin spares extraocular muscles in skeletal muscle alpha-actin diseases--quantification of striated alpha-actins by MRM-mass spectrometryGianina Ravenscroft
Centre for Medical Research, University of Western Australia and Western Australian Institute for Medical Research, B Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia
Neuromuscul Disord 18:953-8. 2008.... - Production of human skeletal alpha-actin proteins by the baculovirus expression systemP Anthony Akkari
Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Australian Neuromuscular Research Institute, 4th Floor, A Block, QEII Medical Centre, Nedlands, 6009, Western Australia, Australia
Biochem Biophys Res Commun 307:74-9. 2003..The BEVS therefore is the method of choice for studying mutant actin proteins causing human diseases... - Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindredDanielle E Dye
Molecular Neurogenetics Laboratory, Centre for Medical Research, West Australian Institute for Medical Research, University of Western Australia M519, B' Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia
Neuromuscul Disord 16:357-60. 2006..We have identified a novel heterozygous Leu1793Pro mutation in MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy... - Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?N G Laing
Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands, Western Australia
Am J Med Genet 42:688-92. 1992..The DNA data for this family are reported and the alternative explanations of chance occurrence and premutation are discussed to explain these unusual findings... - Characterisation of the chicken Cu,Zn superoxide dismutase geneJ L Stanton
Australian Neuromuscular Research Institute, Queen Elizabeth II Medical Centre, Nedlands, Australia
DNA Seq 6:357-60. 1996..This sequence was compared to SOD1 from bovine, human and Xenopus laevis. Important structural features of SOD1 are shown to be conserved in the chicken gene... - Evidence of altered guinea pig ventricular cardiomyocyte protein expression and growth in response to a 5 min in vitro exposure to H(2)O(2)Vidya Seenarain
School of Biomedical, Biomolecular and Chemical Sciences, The University of Western Australia, Western Australia, Australia
J Proteome Res 9:1985-94. 2010..Changes in mitochondrial protein expression and function appear to be early sequelae in the development of hypertrophy... - Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2Vilma Lotta Lehtokari
The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland, and Division of Neurology, University Hospital of Antwerp, Antwerpen, Belgium
Neuromuscul Disord 17:433-42. 2007..Missense mutations in TPM2 have previously been found to cause rare cases of nemaline myopathy and distal arthrogryposis. This mutation is one not previously described and the first genetic cause identified for cap disease... - Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Pankaj B Agrawal
Genomics Program, the Divisions of Genetics and Neonatology, Children s Hospital Boston, Boston, MA, 02115, USA
Am J Hum Genet 80:162-7. 2007.... - Myosin storage (hyaline body) myopathy: a case reportMeena V Shingde
Department of Pathology, University of Sydney, Australia
Neuromuscul Disord 16:882-6. 2006..This case report adds to the clinical description of this rare disorder and confirms that Arg1845Trp is a common mutation associated with this phenotype, at least in the White European population... - Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutationsPankaj B Agrawal
Genomics Program and Division of Genetics, Children s Hospital Boston, MA 02115, USA
Ann Neurol 56:86-96. 2004..Overall, ACTA1 mutations are a common cause of NM, accounting for more than half of severe cases and 26% of all NM cases in this series... - Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)Christopher Meredith
Centre for Human Genetics, Edith Cowan University, Perth, Australia
Am J Hum Genet 75:703-8. 2004..These findings demonstrate that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy. MYH7 is the fourth distal-myopathy gene to have been identified... - Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defectsCeline F Costa
School of Biosciences, Division of Molecular Cell Biology, University of Birmingham, B15 2TT, UK
J Cell Sci 117:3367-77. 2004..Overall, we found a range of defects and behaviors of the mutants in vitro and in cultured cells, paralleling the complexity of actin-based muscle myopathy phenotypes... - Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actinCarina Wallgren-Pettersson
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Neuromuscul Disord 14:461-70. 2004..Finding the causative mutation(s) determines the mode of inheritance and permits prenatal diagnosis if requested, but will not as such permit prognostication... - Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoformsBiljana Ilkovski
The Institute for Neuromuscular Research, The Children s Hospital at Westmead, Australia
Hum Mol Genet 13:1727-43. 2004..A combination of these effects contributes to the common pathological hallmarks of NM, namely intranuclear and cytoplasmic rod formation, accumulation of thin filaments and myofibrillar disorganization... - Myopathies resulting from mutations in sarcomeric proteinsCARSTEN G BONNEMANN
Division of Neurology and Pennsylvania Muscle Institute, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Curr Opin Neurol 17:529-37. 2004..The past decade has seen the discovery of the major role that mutations in the protein components of the sarcomere plays as a cause of human muscle disease. An overview of the more precise molecular definitions of these diseases is timely... - Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)John C Sparrow
Department of Biology, University of York, York, YO10 5DD, UK
Neuromuscul Disord 13:519-31. 2003..g. actin myopathy. This would suggest that interference with certain actin functions may be more associated with certain phenotypes, though the exact pathophysiology of the actin mutations remains unknown... - Actin-related myopathy without any missense mutation in the ACTA1 geneHans H Goebel
Department of Neuropathology, Johannes Gutenberg University Medical Center, Mainz, Germany
J Child Neurol 19:149-53. 2004.... - Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutationsHeinz Jungbluth
Department of Paediatric Neurology, Guy s Hospital, London, UK
Neuromuscul Disord 14:785-90. 2004..Muscle MRI may supplement clinical assessment and aid selection of genetic tests particularly in patients with non-diagnostic or equivocal histopathological features... - Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin geneHelly Goez
Child Development Center, Rakati, Tiberias, Israel
J Child Neurol 20:236-9. 2005..Molecular DNA analysis by polymerase chain reaction (PCR) and direct sequencing revealed a de novo heterozygous missense mutation in the skeletal muscle alpha-actin gene (ACTA1) changing codon 348 from TCG serine to TTG leucine... - Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathyVilma Lotta Lehtokari
The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Hum Mutat 27:946-56. 2006..Patients with more severe clinical pictures tended to have mutations predicted to be more disruptive than patients with milder forms... - A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosisHatice Aksoy
Department of Neurology, Burhan Nalbantoglu Hospital, Lefkosa (Nicosia, Cyprus, UK
Neuroepidemiology 22:235-8. 2003..The A4T mutation, with one exception, was of similar severity to the A4V mutation... - Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathyHans H Goebel
J Child Neurol 21:545. 2006 - Disease severity and thin filament regulation in M9R TPM3 nemaline myopathyBiljana Ilkovski
Institute for Neuromuscular Research, The Children s Hospital at Westmead, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia
J Neuropathol Exp Neurol 67:867-77. 2008..Collectively, these results provide insights into the clinical features and pathogenesis of M9R-TPM3 nemaline myopathy... - Mutations in TPM3 are a common cause of congenital fiber type disproportionNigel F Clarke
Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
Ann Neurol 63:329-37. 2008..The gene encoding alpha-tropomyosin(slow) (TPM3) is a rare cause of nemaline myopathy, previously reported in only five families. We investigated whether mutation of TPM3 is a cause of CFTD... - An alphaTropomyosin mutation alters dimer preference in nemaline myopathyMark A Corbett
The Muscle Development Unit, The Children's Medical Research Institute, Wentworthville, New South Wales 2145, Australia
Ann Neurol 57:42-9. 2005..We suggest this perturbation of tropomyosin isoform levels and dimer preference alters sarcomeric thin filament dynamics and contributes to muscle weakness in nemaline myopathy... - 138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The NetherlandsCarina Wallgren-Pettersson
, University of Helsinki, FIN-00251 Helsinki, Finland
Neuromuscul Disord 16:54-60. 2006 - Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish originVilma Lotta Lehtokari
Department of Medical Genetics, The Folkhälsan Institute of Genetics, University of Helsinki, Biomedicum Helsinki, Helsinki, Finland
Eur J Hum Genet 16:1055-61. 2008..Previously, there had been five reports, only, of NM caused by mutations in TPM3. The mutation reported here is the first deletion to be identified in TPM3, and it is likely to be a founder mutation in the Turkish population...