Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations JF Bateman, RP Boot-Handford, SR Lamandé Nature Reviews Genetics 10 (3), 173-183, 2009 | 367 | 2009 |
Procollagen folding and assembly: the role of endoplasmic reticulum enzymes and molecular chaperones SR Lamande, JF Bateman Seminars in cell & developmental biology 10 (5), 455-464, 1999 | 266 | 1999 |
Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix C Wiberg, E Hedbom, A Khairullina, SR Lamandé, Å Oldberg, R Timpl, ... Journal of Biological Chemistry 276 (22), 18947-18952, 2001 | 258 | 2001 |
Autophagic elimination of misfolded procollagen aggregates in the endoplasmic reticulum as a means of cell protection Y Ishida, A Yamamoto, A Kitamura, SR Lamandé, T Yoshimori, ... Molecular biology of the cell 20 (11), 2744-2754, 2009 | 252 | 2009 |
Collagen superfamily JF Bateman Molecular components and interactions 2, 22-67, 1996 | 244 | 1996 |
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy NL Baker, M Mörgelin, R Peat, N Goemans, KN North, JF Bateman, ... Human molecular genetics 14 (2), 279-293, 2005 | 223 | 2005 |
Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro D Chan, SR Lamande, WG Cole, JF Bateman Biochemical journal 269 (1), 175-181, 1990 | 179 | 1990 |
Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond SR Lamandé, JF Bateman Matrix Biology 71, 348-367, 2018 | 168 | 2018 |
Mutations in TRPV4 cause an inherited arthropathy of hands and feet SR Lamandé, Y Yuan, IL Gresshoff, L Rowley, D Belluoccio, ... Nature genetics 43 (11), 1142-1146, 2011 | 167 | 2011 |
Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the proα1 (I) chain carboxyl … SR Lamandé, SD Chessler, SB Golub, PH Byers, C Chan, WG Cole, ... Journal of Biological Chemistry 270 (15), 8642-8649, 1995 | 160 | 1995 |
Diagnosis and etiology of congenital muscular dystrophy RA Peat, JM Smith, AG Compton, NL Baker, RA Pace, DJ Burkin, ... Neurology 71 (5), 312-321, 2008 | 120 | 2008 |
Reduced Collagen VI Causes Bethlem Myopathy: A Heterozygous COL6A1 Nonsense Mutation Results in mRNA Decay and Functional Haploinsufficiency SR Lamandé, JF Bateman, W Hutchison, RJMK Gardner, SP Bower, ... Human molecular genetics 7 (6), 981-989, 1998 | 118 | 1998 |
Secretion and assembly of type IV and VI collagens depend on glycosylation of hydroxylysines L Sipilä, H Ruotsalainen, R Sormunen, NL Baker, SR Lamandé, ... Journal of Biological Chemistry 282 (46), 33381-33388, 2007 | 107 | 2007 |
Proteasomal degradation of unassembled mutant type I collagen pro-α1 (I) chains J Fitzgerald, SR Lamandé, JF Bateman Journal of Biological Chemistry 274 (39), 27392-27398, 1999 | 101 | 1999 |
Natural history of pulmonary function in collagen VI-related myopathies AR Foley, S Quijano-Roy, J Collins, V Straub, M McCallum, N Deconinck, ... Brain 136 (12), 3625-3633, 2013 | 100 | 2013 |
The C5 domain of the collagen VI α3 (VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells SR Lamandé, M Mörgelin, NE Adams, C Selan, JM Allen Journal of Biological Chemistry 281 (24), 16607-16614, 2006 | 95 | 2006 |
The Role of the α3 (VI) Chain in Collagen VI Assembly: Expression of an α3 (vi) chain lacking n-terminal modules n10–n7 restores collagen vi assembly, secretion, and matrix … SR Lamandé, E Sigalas, TC Pan, ML Chu, M Dziadek, R Timpl, ... Journal of Biological Chemistry 273 (13), 7423-7430, 1998 | 88 | 1998 |
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity RA Pace, RA Peat, NL Baker, L Zamurs, M Mörgelin, M Irving, NE Adams, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 84 | 2008 |
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion SR Lamandé, KA Shields, AJ Kornberg, LK Shield, JF Bateman Journal of Biological Chemistry 274 (31), 21817-21822, 1999 | 84 | 1999 |
A frameshift mutation results in a truncated nonfunctional carboxyl-terminal proα1 (I) propeptide of type I collagen in osteogenesis imperfecta JF Bateman, SR Lamande, HH Dahl, D Chan, T Mascara, WG Cole Journal of Biological Chemistry 264 (19), 10960-10964, 1989 | 83 | 1989 |