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Barbara Triggs-Raine

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Chemicals & Drugs

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Tay-Sachs Disease

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Biswajit Chowdhury; Bruno Flamion; Richard Hemming; Sabine Hombach-Klonisch; Barbara L Triggs-Raine
Murine hyaluronidase 2 deficiency results in extracellular hyaluronan accumulation and severe cardiopulmonary dysfunction.
Abrar Hussain; Christa Kruck; Joy Armistead; Lara Gushulak; Steven Pind; Barbara L Triggs-Raine; Marvin R Natowicz
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
Dan Doherty; Anthony P Fejes; A Micheil Innes; Gisele E Ishak; Steven J M Jones; Moien Kanaan; Edmond G Lemire; Aizeddin A Mhanni; Ian G Phelps; R Curtis Rogers; Hashem Shahin; Mustafa Tekin; Barbara L Triggs-Raine; Hatice Akay; Albert E Chudley; Gail Coghlan; Shing H Zhan; Teresa Zelinski
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

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All Publications

2013: Biswajit Chowdhury; Bruno Flamion; Richard Hemming; Sabine Hombach-Klonisch; Barbara L Triggs-Raine
Murine hyaluronidase 2 deficiency results in extracellular hyaluronan accumulation and severe cardiopulmonary dysfunction.
The Journal of biological chemistry 2013;288(1):520-8.
2012: Abrar Hussain; Christa Kruck; Joy Armistead; Lara Gushulak; Steven Pind; Barbara L Triggs-Raine; Marvin R Natowicz
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
Biochemical and biophysical research communications 2012;426(2):286-8.
2012: Dan Doherty; Anthony P Fejes; A Micheil Innes; Gisele E Ishak; Steven J M Jones; Moien Kanaan; Edmond G Lemire; Aizeddin A Mhanni; Ian G Phelps; R Curtis Rogers; Hashem Shahin; Mustafa Tekin; Barbara L Triggs-Raine; Hatice Akay; Albert E Chudley; Gail Coghlan; Shing H Zhan; Teresa Zelinski
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
American journal of human genetics 2012;90(6):1088-93.
2012: Lara Gushulak; Richard Hemming; Dianna Martin; Alexey V Pshezhetsky; Volkan Seyrantepe; Barbara L Triggs-Raine
Hyaluronidase 1 and β-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation.
The Journal of biological chemistry 2012;287(20):16689-97.
2010: Kristen L Reese; Rolands G Aravindan; Genevieve S Griffiths; Minghai Shao; Yipei Wang; Deni S Galileo; Vasantha Atmuri; Barbara L Triggs-Raine; Patricia A Martin-Deleon
Acidic hyaluronidase activity is present in mouse sperm and is reduced in the absence of SPAM1: evidence for a role for hyaluronidase 3 in mouse and human sperm.
Molecular reproduction and development 2010;77(9):759-72.
2010: Allison Chatel; Rick Hemming; Judith Hobert; Marvin R Natowicz; Barbara L Triggs-Raine; David C Merz
The C. elegans hyaluronidase: a developmentally significant enzyme with chondroitin-degrading activity at both acidic and neutral pH.
Matrix biology : journal of the International Society for Matrix Biology 2010;29(6):494-502.
2010: Xiaoli Wu; Sumit Sandhu; Nehal Patel; Barbara L Triggs-Raine; Hao Ding
EMG1 is essential for mouse pre-implantation embryo development.
BMC developmental biology 2010;10():99.
2009: Joy Armistead; Sunita Khatkar; Britta Meyer; Brian L Mark; Nehal Patel; Gail Coghlan; Ryan E Lamont; Shuangbo Liu; Jill Wiechert; Peter A Cattini; Peter Koetter; Klaus Wrogemann; Cheryl R Greenberg; Karl-Dieter Entian; Teresa Zelinski; Barbara L Triggs-Raine
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
American journal of human genetics 2009;84(6):728-39.
2008: Vasantha Atmuri; Dianna C Martin; Richard Hemming; Alex Gutsol; Sharon Byers; Solmaz Sahebjam; James A Thliveris; John S Mort; Euridice Carmona; Judy E Anderson; Shyamala Dakshinamurti; Barbara L Triggs-Raine
Hyaluronidase 3 (HYAL3) knockout mice do not display evidence of hyaluronan accumulation.
Matrix biology : journal of the International Society for Matrix Biology 2008;27(8):653-60.
2008: Dianna C Martin; Vasantha Atmuri; Richard J Hemming; Judith Farley; John S Mort; Sharon Byers; Sabine Hombach-Klonisch; Antonei B Csoka; Robert Stern; Barbara L Triggs-Raine
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.
Human molecular genetics 2008;17(13):1904-15.
2008: Richard Hemming; Dianna C Martin; Elzbieta Slominski; James I Nagy; Andrew J Halayko; Steven Pind; Barbara L Triggs-Raine
Mouse Hyal3 encodes a 45- to 56-kDa glycoprotein whose overexpression increases hyaluronidase 1 activity in cultured cells.
Glycobiology 2008;18(4):280-9.
2007: Dianna C Martin; Brian L Mark; Barbara L Triggs-Raine; Marvin R Natowicz
Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.
Clinical chemistry 2007;53(3):392-8.
2007: Teresa Zelinski; Gail Coghlan; Jill Mauthe; Barbara L Triggs-Raine
Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene.
Molecular genetics and metabolism 2007;90(2):210-6.
2005: Ryan E Lamont; J Concepción Loredo-Osti; Nicole M Roslin; Jill Mauthe; Gail Coghlan; Edward Nylen; Danielle Frappier; A Micheil Innes; Edmond G Lemire; R Brian Lowry; Cheryl R Greenberg; Barbara L Triggs-Raine; Kenneth Morgan; Klaus Wrogemann; T Mary Fujiwara; Teresa Zelinski
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.
American journal of medical genetics. Part A 2005;132A(2):136-43.
2004: Brandy A Wicklow; Jennifer L Ivanovich; Margot M Plews; Timothy J Salo; Michael J Noetzel; Gregg T Lueder; Luca Cartegni; Michael M Kaback; Konrad Sandhoff; Robert D Steiner; Barbara L Triggs-Raine
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.
American journal of medical genetics. Part A 2004;127A(2):158-66.
2002: Elizabeth A C Sellers; Barbara L Triggs-Raine; Cheryl Rockman-Greenberg; Heather J Dean
The prevalence of the HNF-1alpha G319S mutation in Canadian aboriginal youth with type 2 diabetes.
Diabetes care 2002;25(12):2202-6.
2002: Tamara L Shuttleworth; Michael D Wilson; Brandy A Wicklow; John A Wilkins; Barbara L Triggs-Raine
Characterization of the murine hyaluronidase gene region reveals complex organization and cotranscription of Hyal1 with downstream genes, Fus2 and Hyal3.
The Journal of biological chemistry 2002;277(25):23008-18.
2002: Barbara L Triggs-Raine; Robert D Kirkpatrick; Sherrie L Kelly; Lisa Norquay; Peter A Cattini; Kazuya Yamagata; Anthony J G Hanley; Bernard Zinman; Stewart B Harris; Hugh Barrett; Robert A Hegele
HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(7):4614-9.
2001: Brian L Mark; David J Vocadlo; Spencer Knapp; Barbara L Triggs-Raine; Stephen G Withers; Michael N G James
Crystallographic evidence for substrate-assisted catalysis in a bacterial beta-hexosaminidase.
The Journal of biological chemistry 2001;276(13):10330-7.
2001: Barbara L Triggs-Raine; Don J Mahuran; R A Gravel
Naturally occurring mutations in GM2 gangliosidosis: a compendium.
Advances in genetics 2001;44():199-224.
2001: R Hemming; R Agatep; K Badiani; K Wyant; Gilbert Arthur; R Daniel Gietz; Barbara L Triggs-Raine
Human growth factor receptor bound 14 binds the activated insulin receptor and alters the insulin-stimulated tyrosine phosphorylation levels of multiple proteins.
Biochemistry and cell biology = Biochimie et biologie cellulaire 2001;79(1):21-32.
1999: Barbara L Triggs-Raine; Timothy J Salo; Hesheng Zhang; Brandy A Wicklow; Marvin R Natowicz
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(11):6296-300.
1998: Brian L Mark; G A Wasney; Timothy J Salo; A R Khan; Z Cao; P W Robbins; Michael N G James; Barbara L Triggs-Raine
Structural and functional characterization of Streptomyces plicatus beta-N-acetylhexosaminidase by comparative molecular modeling and site-directed mutagenesis.
The Journal of biological chemistry 1998;273(31):19618-24.
1998: E Petroulakis; Z Cao; Joe T R Clarke; Don J Mahuran; G Lee; Barbara L Triggs-Raine
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
Human mutation 1998;11(6):432-42.
1997: Tracey Weiler; Cheryl R Greenberg; Edward Nylen; Kenneth Morgan; T Mary Fujiwara; MJ Crumley; Teresa Zelinski; William C Halliday; Barbara E Nickel; Barbara L Triggs-Raine; Klaus Wrogemann
Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci.
American journal of medical genetics 1997;72(3):363-8.
1997: R Daniel Gietz; Barbara L Triggs-Raine; A Robbins; Kevin C Graham; Robin A Woods
Identification of proteins that interact with a protein of interest: applications of the yeast two-hybrid system.
Molecular and cellular biochemistry 1997;172(1-2):67-79.
1997: Z Cao; E Petroulakis; Timothy J Salo; Barbara L Triggs-Raine
Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause beta-hexosaminidase A pseudodeficiency by reducing the alpha-subunit protein levels.
The Journal of biological chemistry 1997;272(23):14975-82.
1997: Cheryl A Jerome; S W Scherer; L C Tsui; R Daniel Gietz; Barbara L Triggs-Raine
Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12.
Genomics 1997;40(1):215-6.
1997: E M Prence; C A Jerome; Barbara L Triggs-Raine; Marvin R Natowicz
Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.
Journal of medical screening 1997;4(3):133-6.
1995: M M Richard; G Erenberg; Barbara L Triggs-Raine
An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
Biochemical and molecular medicine 1995;55(1):74-6.
1995: Barbara L Triggs-Raine; M Richard; N Wasel; E M Prence; Marvin R Natowicz
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
American journal of human genetics 1995;56(4):870-9.
1995: Cheryl R Greenberg; D Reimer; R Singal; Barbara L Triggs-Raine; Albert E Chudley; L A Dilling; S Philipps; James C Haworth; LORNE SEARGEANT; S I Goodman
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I.
Human molecular genetics 1995;4(3):493-5.
1995: D H Brown; Barbara L Triggs-Raine; M J McGinniss; M M Kaback
A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.
Human mutation 1995;5(2):173-4.
1995: J Grinshpun; R Khosravi; Leah Peleg; Boleslaw Goldman; F Kaplan; Barbara L Triggs-Raine; Ruth Navon
An Alu1- polymorphism in the HEXA gene is common in Ashkenazi and Sephardic Jews, Israeli Arabs, and French Canadians of Quebec and northern New England.
Human mutation 1995;6(1):89-90.
1994: N Wakamatsu; G Benoit; A M Lamhonwah; Z X Zhang; Jacquetta M Trasler; Barbara L Triggs-Raine; Roy A Gravel
Structural organization, sequence, and expression of the mouse HEXA gene encoding the alpha subunit of hexosaminidase A.
Genomics 1994;24(1):110-9.
1994: Barbara L Triggs-Raine; G Benoit; T J Salo; Jacquetta M Trasler; Roy A Gravel
Characterization of the murine beta-hexosaminidase (HEXB) gene.
Biochimica et biophysica acta 1994;1227(1-2):79-86.
1994: P M Strasberg; Barbara L Triggs-Raine; I B Warren; Marie-Anne Skomorowski; B McInnes; L E Becker; John W Callahan; Joe T R Clarke
Genotype-phenotype pitfalls in Gaucher disease.
Journal of clinical laboratory analysis 1994;8(4):228-36.
1993: Z Cao; Marvin R Natowicz; M M Kaback; J S Lim-Steele; E M Prence; D Brown; T Chabot; Barbara L Triggs-Raine
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
American journal of human genetics 1993;53(6):1198-205.
1993: Cheryl R Greenberg; C L Taylor; James C Haworth; LORNE SEARGEANT; S Philipps; Barbara L Triggs-Raine; Bernard N Chodirker
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
Genomics 1993;17(1):215-7.
1992: Barbara L Triggs-Raine; E H Mules; M M Kaback; J S Lim-Steele; C E Dowling; BR Akerman; Marvin R Natowicz; E E Grebner; R Navon; J P Welch
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
American journal of human genetics 1992;51(4):793-801.
1992: BR Akerman; J Zielenski; Barbara L Triggs-Raine; E M Prence; Marvin R Natowicz; J S Lim-Steele; M M Kaback; E H Mules; George H Thomas; Joe Clarke
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Human mutation 1992;1(4):303-9.
1991: Barbara L Triggs-Raine; BR Akerman; Joe Clarke; Roy A Gravel
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.
American journal of human genetics 1991;49(5):1041-54.
1991: Roy A Gravel; Barbara L Triggs-Raine; Don J Mahuran
Biochemistry and genetics of Tay-Sachs disease.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1991;18(3 Suppl):419-23.
1990: Jack Switala; Barbara L Triggs-Raine; Peter C Loewen
Homology among bacterial catalase genes.
Canadian journal of microbiology 1990;36(10):728-31.
1990: Don J Mahuran; Barbara L Triggs-Raine; Annette Feigenbaum; Roy A Gravel
The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.
Clinical biochemistry 1990;23(5):409-15.
1990: Barbara L Triggs-Raine; A S Feigenbaum; Marvin R Natowicz; Marie-Anne Skomorowski; S M Schuster; Joe T R Clarke; Don J Mahuran; E H Kolodny; Roy A Gravel
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
The New England journal of medicine 1990;323(1):6-12.
1990: Peter C Loewen; Jack Switala; M Smolenski; Barbara L Triggs-Raine
Molecular characterization of three mutations in katG affecting the activity of hydroperoxidase I of Escherichia coli.
Biochemistry and cell biology = Biochimie et biologie cellulaire 1990;68(7-8):1037-44.
1990: Barbara L Triggs-Raine; A Archibald; R A Gravel; J T Clarke
Prenatal exclusion of Tay-Sachs disease by DNA analysis.
Lancet 1990;335(8698):1164.
1990: Barbara L Triggs-Raine; R A Gravel
Diagnostic heteroduplexes: simple detection of carriers of a 4-bp insertion mutation in Tay-Sachs disease.
American journal of human genetics 1990;46(1):183-4.
1988: Michael Mulvey; P A Sorby; Barbara L Triggs-Raine; Peter C Loewen
Cloning and physical characterization of katE and katF required for catalase HPII expression in Escherichia coli.
Gene 1988;73(2):337-45.
1988: Barbara L Triggs-Raine; Bradley Doble; Michael Mulvey; P A Sorby; Peter C Loewen
Nucleotide sequence of katG, encoding catalase HPI of Escherichia coli.
Journal of bacteriology 1988;170(9):4415-9.
1987: Barbara L Triggs-Raine; Peter C Loewen
Physical characterization of katG, encoding catalase HPI of Escherichia coli.
Gene 1987;52(2-3):121-8.
1985: Peter C Loewen; Jack Switala; Barbara L Triggs-Raine
Catalases HPI and HPII in Escherichia coli are induced independently.
Archives of biochemistry and biophysics 1985;243(1):144-9.