Kristen Nowak

Dr

  • The University of Western Australia (M510), 35 Stirling Highway,

    6009 Crawley

    Australia

  • 2438 Citations
  • 27 h-Index
19972019

Research Output 1997 2018

2018

Clinical Utility Gene Card for: Becker muscular dystrophy

Coote, D., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J. 21 Feb 2018 In : European Journal of Human Genetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

CUGC for Duchenne muscular dystrophy (DMD)

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J. 12 Jan 2018 In : European Journal of Human Genetics. p. 1-9 9 p.

Research output: Contribution to journalArticle

Myostatin inhibition using mrk35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice

Tinklenberg, J. A., Siebers, E. M., Beatka, M. J., Meng, H., Yang, L., Zhang, Z., Ross, J. A., Ochala, J., Morris, C., Owens, J. M., Laing, N. G., Nowak, K. J. & Lawlor, M. W. 15 Feb 2018 In : Human Molecular Genetics. 27, 4, p. 638-648 11 p., ddx431

Research output: Contribution to journalArticle

Nemaline Myopathies
Myostatin
Skeletal Muscle
Forelimb
Muscle Strength
2017

Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic

Ardicli, D., Nowak, K., Haliloglu, G., Goullee, H., Davis, M., Talim, B., Laing, N. & Topaloglu, H. Oct 2017 In : NEUROMUSCULAR DISORDERS. 27, p. S196-S196 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2015

A mine of genetic information

Morahan, G., Ram, R., Balmer, L. & Nowak, K. 2015 International Innovation, p. 66-67 2 p.

Research output: Contribution to specialist publicationArticle

5 Citations

Clinical utility gene card for: Nemaline myopathy - update 2015

Nowak, K., Davis, M. R., Wallgren-Pettersson, C., Lamont, P. J. & Laing, N. Nov 2015 In : European Journal of Human Genetics. 23, 11, p. e1-e5 5 p.

Research output: Contribution to journalArticle

Open Access
File
6 Citations

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

Yuen, M., Cooper, S. T., Marston, S. B., Nowak, K., Mcnamara, E., Mokbe, N., Ilkovski, B., Ravenscroft, G., Rendu, J., Dewinter, J. M., Klinge, L., Beggs, A. H., North, K. N., Ottenheijm, C. A. C. & Clarke, N. F. 22 Nov 2015 In : Human Molecular Genetics. 24, 22, p. 6278-6292 15 p.

Research output: Contribution to journalArticle

Open Access
pioglitazone
Muscle Weakness
Muscular Diseases
Myosins
Tropomyosin
9 Citations

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Donkervoort, S. , Papadaki, M. , De Winter, J. M. , Neu, M. B. , Kirschner, J. , Bolduc, V. , Yang, M. L. , Gibbons, M. A. , Hu, Y. , Dastgir, J. , Leach, M. E. , Rutkowski, A. , Foley, A. R. , Krüger, M. , Wartchow, E. P. , Mcnamara, E. , Ong, R. , Nowak, K. , Laing, N. , Clarke, N. F. & 3 others Ottenheijm, C. A. C., Marston, S. B. & Bönnemann, C. G. Dec 2015 In : Annals of Neurology. 78, 6, p. 982-994

Research output: Contribution to journalArticle

Open Access
File
Tropomyosin
Actins
Phenotype
Muscles
Mutation
2 Citations

X-ray recordings reveal how a human disease-linked skeletal muscle α-actin mutation leads to contractile dysfunction

Ochala, J., Ravenscroft, G., Mcnamara, E., Nowak, K. & Iwamoto, H. Dec 2015 In : Journal of Structural Biology. 192, 3, p. 331-335 5 p.

Research output: Contribution to journalArticle

Actins
Skeletal Muscle
X-Rays
Mutation
Myosins
13 Citations

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function

Sztal, T. E., Zhao, M., Williams, C., Oorschot, V., Parslow, A. C., Giousoh, A., Yuen, M., Hall, T. E., Costin, A., Ramm, G., Bird, P. I., Busch-Nentwich, E. M., Stemple, D. L., Currie, P. D., Cooper, S. T., Laing, N., Nowak, K. & Bryson-Richardson, R. J. Sep 2015 In : Acta Neuropathologica. 130, 3, p. 389-406

Research output: Contribution to journalArticle

Open Access
Nemaline Myopathies
Zebrafish
Muscle Weakness
Actins
Muscles
2014
31 Citations

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Marttila, M. , Lehtokari, V. L. , Marston, S. B. , Nyman, T. A. , Barnérias, C. , Beggs, A. H. , Bertini, E. , Ceyhan-Birsoy, O. , Cintas, P. , Gérard, M. J. , Gilbert-Dussardier, B. , Hogue, J. S. , Longman, C. A. L. , Eymard, B. , Frydman, M. I. , Kang, P. , Klinge, L. , Kolski, H. K. , Lochmüller, H. , Magy, L. & 21 others Manel, V., Mayer, M. N., Mercuri, E. A., North, K. N., Peudenier-Robert, S., Pihko, H., Probst, F. J., Reisin, R. C., Stewart, W. R., Taratuto, A. L., De Visser, M., Wilichowski, E. K. G., Winer, J. B., Nowak, K., Laing, N., Winder, T. L., Monnier, N., Clarke, N. F., Pelin, K., Grönholm, M. & Wallgren-Pettersson, C. 2014 In : Human Mutation. 35, 7, p. 779-790

Research output: Contribution to journalArticle

Myotonia Congenita
Genetic Association Studies
Mutation
Tropomyosin
Nemaline Myopathies
14 Citations

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

Marttila, M., Hanif, M., Lemola, E., Nowak, K., Laitila, J., Grönholm, M., Wallgren-Pettersson, C. & Pelin, K. 2014 In : Skeletal Muscle. 4, p. 1-10

Research output: Contribution to journalArticle

Open Access
Tropomyosin
Actins
Mutation
Nemaline Myopathies
nebulin
2013
11 Citations

Cardiac α-actin over-expression therapy in dominant ACTA1 disease

Ravenscroft, G., Mcnamara, E., Griffiths, L. M., Papadimitriou, J., Hardeman, E. C., Bakker, T., Davies, K. E., Laing, N. & Nowak, K. 2013 In : Human Molecular Genetics. 22, 19, p. 3987-3997

Research output: Contribution to journalArticle

34 Citations

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca2+ sensitivity

Memo, M., Leung, M-C., Ward, D. G., Dos Remédios, C., Morimoto, S., Zhang, L., Ravenscroft, G., Mcnamara, E., Nowak, K., Marston, S. B. & Messer, A. E. 2013 In : Cardiovascular Research. 99, 1, p. 65-73

Research output: Contribution to journalArticle

Open Access
Troponin I
Dilated Cardiomyopathy
Phosphorylation
Tropomyosin
Mutation
1 Citations

Genetics of Muscle Disease

Nowak, K., Lamont, P. & Laing, N. 2013 MUSCLE DISEASE Pathology and Genetics. Weller, R. O. (ed.). Second Edition ed. United Kingdom: John Wiley & Sons, p. 375

Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

6 Citations
Open Access
2012

Indigenous Health: ACTION on Prevention - 50th Annual Australian Society for Medical Research National Scientific Conference

Yazbeck, R., Dawson, P., Rogers, N., West, C., Keogh, R., Wallace, D., Polyak, S., Nowak, K., Burt, R., Taylor, J., Dunn, L., Philp, A. & Parkinson-Lawrence, E. 2012 50th annual National Scientific Conference of the Australian Society for Medical Research. Australia: Australian Rural Health Educ Network, Vol. 12, p. 1-5

Research output: Chapter in Book/Report/Conference proceedingConference paper

22 Citations

Nemaline Myopathy with Stiffness and Hypertonia associated with an ACTA1 Mutation

Jain, R. K., Jayawant, S., Squier, W., Muntoni, F., Sewry, C. A., Manzur, A., Quinlivan, R., Lillis, S., Jungbluth, H., Sparrow, J. C., Ravenscroft, G., Nowak, K., Memo, M., Marston, S. B. & Laing, N. 2012 In : Neurology. 78, p. 1100-1103

Research output: Contribution to journalReview article

1 Citations

Trusting new age weapons to tackle titin

Nowak, K. 2012 In : Brain. 135, p. 1665-1667

Research output: Contribution to journalArticle

Open Access
2011
17 Citations

Actin nemaline myopathy mouse reproduces disease, suggests other Actin Disease phenotypes and provides cautionary note on muscle transgene expression

Ravenscroft, G., Jackaman, C., Sewry, C. A., Mcnamara, E., Squire, S. E., Potter, A. C., Papadimitriou, J., Griffiths, L. M., Bakker, T., Davies, K., Laing, N. & Nowak, K. 2011 In : PLoS One. 6, 12, p. 1-13

Research output: Contribution to journalArticle

Open Access
16 Citations

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

Ravenscroft, G., Wilmshurst, J. M., Pillay, K., Sivadori, P., Wallefeld, W., Nowak, K. & Laing, N. 2011 In : Neuromuscular Disorders. 21, p. 31-36

Research output: Contribution to journalReview article

4 Citations

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations

Saito, Y., Komaki, H., Hattori, A., Takeuchi, F., Sasaki, M., Kawabata, K., Mitsuhashi, S., Tominaga, K., Hayashi, Y. K., Nowak, K. J., Laing, N. G., Nonaka, I. & Nishino, I. 2011 In : Neuromuscular Disorders. 21, 7, p. 489-493

Research output: Contribution to journalArticle

77 Citations

Nemaline Myopathies

Wallgren-Pettersson, C., Sewry, C. A., Nowak, K. & Laing, N. 2011 In : SEMINARS IN PEDIATRIC NEUROLOGY. 18, p. 230-238

Research output: Contribution to journalArticle

2010
86 Citations

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Sambuughin, N. , Yau, K. S. , Olive, M. , Duff, R. , Bayarsaikhan, M. , Lu, S. , Gonzalez-Mera, L. , Sivadorai, P. , Nowak, K. , Ravenscroft, G. , Mastaglia, F. , North, K. N. , Ilkovski, B. , Kremer, H. , Lammens, M. , Van Engelen, B. G. M. , Fabian, V. , Lamont, P. , Davis, M. R. , Laing, N. & 1 others Goldfarb, L. G. 2010 In : American Journal of Human Genetics. 87, 6, p. 842-847

Research output: Contribution to journalArticle

Open Access
43 Citations

Investigation of a transgenic mouse model of familial dilated cardiomyopathy

Song, W., Dyer, E., Stuckey, D., Leung, M-C., Memo, M., Mansfield, C., Ferenczi, M., Liu, K., Redwood, C., Nowak, K., Harding, S., Clarke, K., Wells, D. & Marston, S. 2010 In : Journal of Molecular and Cellular Cardiology. 49, p. 380-389

Research output: Contribution to journalArticle

15 Citations

Investigation of changes in skeletal muscle a-actin expression in normal and pathological human and mouse hearts

Copeland, O. N., Nowak, K., Laing, N., Ravenscroft, G., Messer, A. E., Bayliss, C. R. & Marston, S. B. 2010 In : Journal of Muscle Research and Cell Motility. 31, p. 207-214

Research output: Contribution to journalArticle

2009
7 Citations

Direct visualisation and kinetic analysis of normal and nemaline myopathy actin polymerisation using total internal reflection microscopy

Feng, J. J., Ushakov, D. S., Ferenczi, M. A., Laing, N., Nowak, K. & Marston, S. B. 2009 In : Journal of Muscle Research and Cell Motility. 30, 1-2, p. 85-92

Research output: Contribution to journalArticle

Nemaline Myopathies
Polymerization
Actins
Microscopy
Microscopic examination
107 Citations

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)

Laing, N. G., Dye, D. E., Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T. L., Lochmüller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J. C., Beggs, A. H. & Nowak, K. J. Sep 2009 In : Human Mutation. 30, 9, p. 1267-77 11 p.

Research output: Contribution to journalArticle

Actins
Skeletal Muscle
Mutation
Genes
Nemaline Myopathies

Mutations and Polymorphisms of the Skeletal Muscle x-Actin Gene (ACTA1)

Laing, N., Dye, D. E., Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T. L., Lochmuller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J. C., Beggs, A. H. & Nowak, K. 2009 In : Human Mutation. 30, 9, p. 1-11

Research output: Contribution to journalArticle

Actins
Skeletal Muscle
Mutation
Genes
Nemaline Myopathies

Rescue of Skeletal muscle x-actin-null mice by cardiac (fetal) x-actin

Nowak, K., Ravenscroft, G., Jackaman, C., Filipovska, A., Davies, S., Lim, E., Squire, S. E., Potter, A. C., Baker, E., Clement, S., Sewry, C. A., Fabian, V., Crawford, K., Lessard, J. L., Griffiths, L. M., Papadimitriou, J. M., Shen, Y., Morahan, G., Davies, K. E. & Laing, N. 25 May 2009 In : Journal of Cell Biology. 185, 5, p. 903-915 13 p.

Research output: Contribution to journalArticle

Open Access
File
Actins
Skeletal Muscle
Myotonia Congenita
Fetal Heart
Hand Strength
2008
13 Citations

Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases - determination of cardiac α-actin by MRM mass spectrometry

Ravenscroft, G., Colley, S., Walker, K., Clement, S., Bringans, S., Lipscombe, R., Fabian, V., Laing, N. & Nowak, K. 2008 In : Neuromuscular Disorders. 18, p. 786-786

Research output: Contribution to journalReview article

2 Citations

Therapeutic Approaches for the Sarcomeric Protein Diseases

Nowak, K. 2008 The Sarcomere and Skeletal Muscle Disease. Laing, N. G. (ed.). U.S.A.: Springer, Vol. 642, p. 207-223

Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

2007
29 Citations

Dissociated Flexor Digitorum Brevis Myofiber Culture System-A More Mature Muscle Culture System

Ravenscroft, G., Nowak, K., Jackaman, C., Clement, S., Lyons, M. A., Gallagher, S., Bakker, T. & Laing, N. 2007 In : Cell Motility and the Cytoskeleton. 64, 10, p. 727-738

Research output: Contribution to journalArticle

Skeletal Muscle
Fetal Proteins
Muscles
Skeletal Muscle Fibers
Actins
2006
11 Citations

Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128

Donner, K., Nowak, K., Aro, M., Pelin, K. & Wallgren-Pettersson, C. 2006 In : Genomics. 88, 4, p. 489-495

Research output: Contribution to journalArticle

Exons
Muscles
Genes
Alternative Splicing
Diaphragm
55 Citations

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

D'Amico, A., Graziano, C., Pacileo, G., Petrini, S., Nowak, K., Boldrini, R., Jacques, A., Feng, J. J., Porfirio, B., Sewry, C. A., Santorelli, F. M., Limongelli, G., Bertini, E., Laing, N. & Marston, S. B. 2006 In : Neuromuscular Disorders. 16, 9/10, p. 548-552

Research output: Contribution to journalArticle

Nemaline Myopathies
Hypertrophic Cardiomyopathy
Actins
Mutation
Actinin
190 Citations

Molecular mechanisms of muscular dystrophies: old and new players

Davies, K. E. & Nowak, K. 2006 In : Nature Reviews Molecular Cell Biology. 7, 10, p. 762-773

Research output: Contribution to journalArticle

Muscular Dystrophies
Mutation
Mutant Proteins
Post Translational Protein Processing
Muscle Cells
22 Citations

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

Wallefeld, W., Krause, S., Nowak, K., Dye, D. E., Horvath, R., Molnar, Z., Szabo, M., Hashimoto, K., Reina, C., Carlos, J. D., Rosell, J., Cabello, A., Navarro, C., Nishino, I., Lochmuller, H. & Laing, N. 2006 In : Neuromuscular Disorders. 16, p. 541-547

Research output: Contribution to journalArticle

Nemaline Myopathies
Terminator Codon
Actins
Skeletal Muscle
Mutation
2005
11 Citations

A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours

Sewry, C. A., Nowak, K., Ehmsen, J. T. & Davies, K. E. 2005 In : Neuromuscular Disorders. 15, 11, p. 779-785

Research output: Contribution to journalArticle

Utrophin
Muscles
Sarcolemma
Dystrophin
Neoplasms
6 Citations

Muscular Dystrophies Related to the Cytoskeleton/Nuclear Envelope

Nowak, K., Mccullagh, K., Poon, E. & Davies, K. E. 2005 Nuclear organization in development and disease. Chadwick, D. J. & Goode, J. (eds.). United Kingdom: John Wiley & Sons, Vol. 264, p. 98-111

Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

62 Citations

When contractile proteins go bad: the sarcomere and skeletal muscle disease

Laing, N. & Nowak, K. 2005 In : skeletal muscle disease. 27, 8, p. 809-822

Research output: Contribution to journalLiterature review

2004
21 Citations

Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression

Simpson, B. J., Height, T. A., Rychkov, G. Y., Nowak, K., Laing, N., Hughes, B. P. & Bretag, A. H. 2004 In : Human Mutation. 24, p. 185

Research output: Contribution to journalArticle

Myotonia
Chloride Channels
Mutation
Genes
Chlorides
147 Citations

Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment

Nowak, K. & Davies, K. E. 2004 In : EMBO reports. 5, p. 872-876

Research output: Contribution to journalReview article

Dystrophin
Duchenne Muscular Dystrophy
Mutation
Muscle
Gene therapy
62 Citations

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

Ilkovski, B., Nowak, K., Domazetovska, A., Maxwell, A. L., Clement, S., Davies, K. E., Laing, N., North, K. N. & Cooper, S. T. 2004 In : Human Molecular Genetics. 13, 16, p. 1727-1743

Research output: Contribution to journalArticle

Nemaline Myopathies
Polymerization
Actins
Protein Isoforms
Myoblasts
76 Citations

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebuline and skeletal muscle α-actin

Wallgren-Pettersson, C., Pelin, K., Nowak, K., Muntoni, F., Romero, N. B., Goebel, H. H., North, K. N., Beggs, A. H. & Laing, N. 2004 In : Neuromuscular Disorders. 14, 8-9, p. 461-470

Research output: Contribution to journalArticle

Nemaline Myopathies
Genetic Association Studies
Actins
Skeletal Muscle
Mutation
2003
4 Citations
Baculoviridae
Cobalt
Affinity Chromatography
Proteins
Calcium

Production of human skeletal alpha-actin proteins by the baculovirus expression system

Anthony Akkari, P., Nowak, K. J., Beckman, K., Walker, K. R., Schachat, F. & Laing, N. G. 18 Jul 2003 In : Biochemistry Biophysics Research Communications. 307, 1, p. 74-9 6 p.

Research output: Contribution to journalArticle

Baculoviridae
Actins
Mutant Proteins
Muscle
Proteins
9 Citations

Production of human skeletal α-actin proteins by the baculovirus expression system

Akkari, P. A., Nowak, K., Beckman, S. K., Walker, K., Schachat, F. & Laing, N. 2003 In : Biochemical and Biophysical Research Communications. 307, 1, p. 74-79

Research output: Contribution to journalArticle

Baculoviridae
Actins
Mutant Proteins
Muscle
Proteins
2002

Sarcomeric Protein Congenital Myopathies - Can Successful Treatments Be Developed?

Nowak, K. & Laing, N. 2002 Neuropathology - back to the roots. Bohl, J. (ed.). Aachen, Germany: Shaker Verlag, p. 1-23

Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

2001
42 Citations

Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle

Thirion, C., Stucka, R., Mendel, B., Gruhler, A., Jaksch, M., Nowak, K., Binz, N., Laing, N. & Lochmuller, H. 2001 In : European Journal of Biochemistry. 268, p. 3473-3482

Research output: Contribution to journalArticle

Cofilin 2
Actin Depolymerizing Factors
Muscle
Muscles
Chromosomes, Human, Pair 14
9 Citations

Congenital Nemaline Myopathy due to ACTA1-Gene Mutation and Carnitine Insufficiency: A Case report

Buxmann, H., Schlosser, R., Schlote, W., Sewell, A., Nowak, K., Laing, N. & Loewenich, V. 2001 In : Neuropediatrics. 32, p. 267-270

Research output: Contribution to journalArticle

Nemaline Myopathies
Myotonia Congenita
Carnitine
Mutation
Genes