210 related articles for article (PubMed ID: 10419498)
1. Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.
Lamandé SR; Shields KA; Kornberg AJ; Shield LK; Bateman JF
J Biol Chem; 1999 Jul; 274(31):21817-22. PubMed ID: 10419498
[TBL] [Abstract][Full Text] [Related]
2. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations.
Lamandé SR; Mörgelin M; Selan C; Jöbsis GJ; Baas F; Bateman JF
J Biol Chem; 2002 Jan; 277(3):1949-56. PubMed ID: 11707460
[TBL] [Abstract][Full Text] [Related]
3. A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy.
Pepe G; Giusti B; Bertini E; Brunelli T; Saitta B; Comeglio P; Bolognese A; Merlini L; Federici G; Abbate R; Chu ML
Biochem Biophys Res Commun; 1999 May; 258(3):802-7. PubMed ID: 10329467
[TBL] [Abstract][Full Text] [Related]
4. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
Pan TC; Zhang RZ; Sudano DG; Marie SK; Bönnemann CG; Chu ML
Am J Hum Genet; 2003 Aug; 73(2):355-69. PubMed ID: 12840783
[TBL] [Abstract][Full Text] [Related]
5. The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-deficient cell line.
Lamandé SR; Sigalas E; Pan TC; Chu ML; Dziadek M; Timpl R; Bateman JF
J Biol Chem; 1998 Mar; 273(13):7423-30. PubMed ID: 9516440
[TBL] [Abstract][Full Text] [Related]
6. Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
Zamurs LK; Idoate MA; Hanssen E; Gomez-Ibañez A; Pastor P; Lamandé SR
J Biol Chem; 2015 Feb; 290(7):4272-81. PubMed ID: 25533456
[TBL] [Abstract][Full Text] [Related]
7. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Baker NL; Mörgelin M; Peat R; Goemans N; North KN; Bateman JF; Lamandé SR
Hum Mol Genet; 2005 Jan; 14(2):279-93. PubMed ID: 15563506
[TBL] [Abstract][Full Text] [Related]
8. Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.
Tooley LD; Zamurs LK; Beecher N; Baker NL; Peat RA; Adams NE; Bateman JF; North KN; Baldock C; Lamandé SR
J Biol Chem; 2010 Oct; 285(43):33567-33576. PubMed ID: 20729548
[TBL] [Abstract][Full Text] [Related]
9. COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.
Pepe G; Lucarini L; Zhang RZ; Pan TC; Giusti B; Quijano-Roy S; Gartioux C; Bushby KM; Guicheney P; Chu ML
Ann Neurol; 2006 Jan; 59(1):190-5. PubMed ID: 16278855
[TBL] [Abstract][Full Text] [Related]
10. Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Baker NL; Mörgelin M; Pace RA; Peat RA; Adams NE; Gardner RJ; Rowland LP; Miller G; De Jonghe P; Ceulemans B; Hannibal MC; Edwards M; Thompson EM; Jacobson R; Quinlivan RC; Aftimos S; Kornberg AJ; North KN; Bateman JF; Lamandé SR
Ann Neurol; 2007 Oct; 62(4):390-405. PubMed ID: 17886299
[TBL] [Abstract][Full Text] [Related]
11. A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.
Pan TC; Zhang RZ; Arita M; Bogdanovich S; Adams SM; Gara SK; Wagener R; Khurana TS; Birk DE; Chu ML
J Biol Chem; 2014 Apr; 289(15):10293-10307. PubMed ID: 24563484
[TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.
Caria F; Cescon M; Gualandi F; Pichiecchio A; Rossi R; Rimessi P; Cotti Piccinelli S; Gallo Cassarino S; Gregorio I; Galvagni A; Ferlini A; Padovani A; Bonaldo P; Filosto M
Neuromuscul Disord; 2019 Sep; 29(9):657-663. PubMed ID: 31471117
[TBL] [Abstract][Full Text] [Related]
13. The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells.
Lamandé SR; Mörgelin M; Adams NE; Selan C; Allen JM
J Biol Chem; 2006 Jun; 281(24):16607-14. PubMed ID: 16613849
[TBL] [Abstract][Full Text] [Related]
14. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Lampe AK; Zou Y; Sudano D; O'Brien KK; Hicks D; Laval SH; Charlton R; Jimenez-Mallebrera C; Zhang RZ; Finkel RS; Tennekoon G; Schreiber G; van der Knaap MS; Marks H; Straub V; Flanigan KM; Chu ML; Muntoni F; Bushby KM; Bönnemann CG
Hum Mutat; 2008 Jun; 29(6):809-22. PubMed ID: 18366090
[TBL] [Abstract][Full Text] [Related]
15. Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
Zhang RZ; Zou Y; Pan TC; Markova D; Fertala A; Hu Y; Squarzoni S; Reed UC; Marie SKN; Bönnemann CG; Chu ML
J Biol Chem; 2010 Mar; 285(13):10005-10015. PubMed ID: 20106987
[TBL] [Abstract][Full Text] [Related]
16. The N-terminal N5 subdomain of the alpha 3(VI) chain is important for collagen VI microfibril formation.
Fitzgerald J; Mörgelin M; Selan C; Wiberg C; Keene DR; Lamandé SR; Bateman JF
J Biol Chem; 2001 Jan; 276(1):187-93. PubMed ID: 11027693
[TBL] [Abstract][Full Text] [Related]
17. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
Pan TC; Zhang RZ; Pericak-Vance MA; Tandan R; Fries T; Stajich JM; Viles K; Vance JM; Chu ML; Speer MC
Hum Mol Genet; 1998 May; 7(5):807-12. PubMed ID: 9536084
[TBL] [Abstract][Full Text] [Related]
18. Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency.
Lamandé SR; Bateman JF; Hutchison W; McKinlay Gardner RJ; Bower SP; Byrne E; Dahl HH
Hum Mol Genet; 1998 Jun; 7(6):981-9. PubMed ID: 9580662
[TBL] [Abstract][Full Text] [Related]
19. Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants.
Paassilta P; Pihlajamaa T; Annunen S; Brewton RG; Wood BM; Johnson CC; Liu J; Gong Y; Warman ML; Prockop DJ; Mayne R; Ala-Kokko L
J Biol Chem; 1999 Aug; 274(32):22469-75. PubMed ID: 10428822
[TBL] [Abstract][Full Text] [Related]
20. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Lucioli S; Giusti B; Mercuri E; Vanegas OC; Lucarini L; Pietroni V; Urtizberea A; Ben Yaou R; de Visser M; van der Kooi AJ; Bönnemann C; Iannaccone ST; Merlini L; Bushby K; Muntoni F; Bertini E; Chu ML; Pepe G
Neurology; 2005 Jun; 64(11):1931-7. PubMed ID: 15955946
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]