S. Lamandé

发表

The type I collagen pro alpha 1(I) COOH-terminal propeptide N-linked oligosaccharide. Functional analysis by site-directed mutagenesis.

J. Bateman, S. Lamandé, 1995, The Journal of biological chemistry.

Autophagic elimination of misfolded procollagen aggregates in the endoplasmic reticulum as a means of cell protection.

A. Yamamoto, Akira Kitamura, T. Yoshimori, 2009, Molecular biology of the cell.

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*

M. Mörgelin, C. Selan, Justin M. Allen, 2006, Journal of Biological Chemistry.

E. Haan, D. Sillence, S. Aftimos, 2011, Orphanet journal of rare diseases.

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

R. Boot-Handford, J. Bateman, S. Lamandé, 2009, Nature Reviews Genetics.

Benfotiamine reduces pathology and improves muscle function in mdx mice

Jason D. White, E. Gibbs, S. Lamandé, 2018, bioRxiv.

Biglycan and Decorin Bind Close to the N-terminal Region of the Collagen VI Triple Helix*

R. Timpl, D. Heinegård, E. Hedbom, 2001, The Journal of Biological Chemistry.

Secretion and Assembly of Type IV and VI Collagens Depend on Glycosylation of Hydroxylysines*

A. Aszódi, Y. Sado, R. Sormunen, 2007, Journal of Biological Chemistry.

Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy.

S. Lamandé, 2021, Advances in experimental medicine and biology.

Familial digital arthropathy-brachydactyly.

R. Gardner, D. Amor, R. Savarirayan, 2002, American journal of medical genetics.

Collagen misfolding mutations: the contribution of the unfolded protein response to the molecular pathology

M. Shoulders, J. Bateman, S. Lamandé, 2022, Connective tissue research.

Mice Lacking the Extracellular Matrix Protein WARP Develop Normally but Have Compromised Peripheral Nerve Structure and Function*

U. Schlötzer-Schrehardt, B. Brachvogel, J. Bateman, 2009, Journal of Biological Chemistry.

Genetic Disorders of the Extracellular Matrix

J. Bateman, S. Lamandé, 2019, Anatomical record.

Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta

D. Sillence, S. Lamandé, 2014 .

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense‐mediated mRNA instability

M. Kohonen-Corish, S. Forrest, R. Otway, 1999, Human mutation.

A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.

P. McIntyre, C. Wade, B. Haase, 2016, Osteoarthritis and cartilage.

Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism.

R. Savarirayan, P. Crawford, S. Lamandé, 2002, Oral diseases.

Modulating the Mechanical Activation of TRPV4 at the Cell-Substrate Interface

K. Poole, Jessica L Richardson, A. Tay, 2021, Frontiers in Bioengineering and Biotechnology.

Endoplasmic Reticulum-mediated Quality Control of Type I Collagen Production by Cells from Osteogenesis Imperfecta Patients with Mutations in the proα1(I) Chain Carboxyl-terminal Propeptide which Impair Subunit Assembly (*)

D. Sillence, P. Byers, W. Cole, 1995, The Journal of Biological Chemistry.

Detection and localization of base changes in RNA using a chemical cleavage method.

R. Cotton, H. Dahl, J. Bateman, 1989, Analytical Biochemistry.

Intracellular trafficking and degradation of unassociated proalpha2 chains of collagen type I.

J. Bateman, S. Lamandé, R. Bienkowski, 2004, Experimental cell research.

, Eric 2 ( VI ) Chain α the Collagen VI Amino Acid Substitution That Destabilizes Myopathy Patient with a Homozygous Aberrant Mitochondria in a Bethlem

P. Pástor, E. Hanssen, M. Idoate, 2015 .

Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain*

P. Pástor, E. Hanssen, M. Idoate, 2014, The Journal of Biological Chemistry.

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

J. Gécz, M. Stratton, P. Tarpey, 2008, Neuromuscular Disorders.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2019, JCI insight.

Reduction of Lysyl Hydroxylase 3 Causes Deleterious Changes in the Deposition and Organization of Extracellular Matrix*

R. Sormunen, R. Myllylä, Antti M. Salo, 2009, The Journal of Biological Chemistry.

Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing.

E. Stanley, A. Elefanty, J. Lilianty, 2020, Stem cell research.

Generation of a SOX9-tdTomato reporter human iPSC line, MCRIi001-A-2, using CRISPR/Cas9 editing.

E. Stanley, A. Elefanty, J. Lilianty, 2019, Stem cell research.

Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.

W. Cole, H. Dahl, J. Bateman, 1989, The Journal of biological chemistry.

Bethlem Myopathy and Engineered Collagen VI Triple Helical Deletions Prevent Intracellular Multimer Assembly and Protein Secretion*

A. Kornberg, J. Bateman, K. Shields, 1999, The Journal of Biological Chemistry.

Identification of Two Independent COL5A1 Variants in Dogs with Ehlers–Danlos Syndrome

E. Hanssen, T. Leeb, Shannon G. M. Kirejczyk, 2019, bioRxiv.

Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia.

Jacqueline T Tan, J. Bateman, S. Freddi, 2008, American journal of human genetics.

mRNA Decay

S. Lamandé, 2018, Methods in Molecular Biology.

Procollagen folding and assembly: the role of endoplasmic reticulum enzymes and molecular chaperones.

J. Bateman, S. Lamandé, John F. Bateman, 1999, Seminars in cell & developmental biology.

Molecular Genetics of the Cartilage Collagenopathies

R. Savarirayan, J. Bateman, S. Lamandé, 2017 .

XBP1s-Mediated Endoplasmic Reticulum Proteostasis Network Enhancement Can Selectively Improve Folding and Secretion of an Osteogenesis Imperfecta-Causing Collagen-I Variant

Vincent L. Butty, D. Eyre, M. Shoulders, 2021, bioRxiv.

Proteasomal Degradation of Unassembled Mutant Type I Collagen Pro-α1(I) Chains*

J. Bateman, S. Lamandé, J. Fitzgerald, 1999, The Journal of Biological Chemistry.

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.

R. Timpl, J. Bateman, E. Sigalas, 1998, The Journal of biological chemistry.

Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta.

W. Cole, H. Dahl, J. Bateman, 1993, American journal of medical genetics.

Correlation of clinical and molecular biological abnormalities in osteogenesis imperfecta.

W. Cole, D. Chan, S. Lamandé, 1989, Connective tissue research.

Diagnosis and etiology of congenital muscular dystrophy

K. North, A. Compton, D. Burkin, 2008, Neurology.

Nutraceuticals and Their Potential to Treat Duchenne Muscular Dystrophy: Separating the Credible from the Conjecture

S. Lamandé, C. Coles, K. Woodman, 2016, Nutrients.

Nonsense-mediated mRNA decay of collagen –emerging complexity in RNA surveillance mechanisms

Yiwen Fang, J. Bateman, J. Mercer, 2013, Journal of Cell Science.

GAPTrap: A Simple Expression System for Pluripotent Stem Cells and Their Derivatives

E. Stanley, D. Elliott, S. Howden, 2016, Stem cell reports.

GAPTrap: A Simple Expression System for Pluripotent Stem Cells and Their Derivatives

E. Stanley, D. Elliott, S. Howden, 2016, Stem cell reports.

Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro.

W. Cole, J. Bateman, D. Chan, 1990, The Biochemical journal.

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

K. Mathews, K. North, M. Mörgelin, 2008, Annals of neurology.

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

W. Cole, H. Dahl, J. Bateman, 1990, The Journal of biological chemistry.

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia

R. Savarirayan, J. Bateman, S. Freddi, 2005, Human mutation.

Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond.

J. Bateman, S. Lamandé, 2017, Matrix biology : journal of the International Society for Matrix Biology.

In vitro expression analysis of collagen biosynthesis and assembly.

J. Bateman, D. Chan, D. McQuillan, 1997, Journal of biochemical and biophysical methods.

Collagen VIα2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFα signaling

M. Young, V. Kram, C. Bonnemann, 2020, Scientific Reports.

The N-terminal N5 Subdomain of the α3(VI) Chain Is Important for Collagen VI Microfibril Formation*

D. Keene, M. Mörgelin, C. Selan, 2001, The Journal of Biological Chemistry.

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

K. North, N. Goemans, M. Mörgelin, 2004, Human molecular genetics.

Kinked Collagen VI Tetramers and Reduced Microfibril Formation as a Result of Bethlem Myopathy and Introduced Triple Helical Glycine Mutations*

F. Baas, M. Mörgelin, C. Selan, 2002, The Journal of Biological Chemistry.

Circadian time series proteomics reveals daily dynamics in cartilage physiology

K. Kadler, J. Hoyland, C. Lawless, 2019, bioRxiv.

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

K. North, K. Jones, R. Peat, 2007, Neuromuscular Disorders.

Molecular analysis for genetic counselling in amelogenesis imperfecta.

A. Bankier, R. Savarirayan, N. Lench, 2002, Oral diseases.

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

P. McIntyre, Yuan Yuan, K. Kaluarachchi, 2011, Nature Genetics.

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

M. Bahlo, N. Clarke, Luke C. Gandolfo, 2012, Brain : a journal of neurology.

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

B. Ceulemans, S. Aftimos, M. Hannibal, 2007, Annals of neurology.

Natural history of pulmonary function in collagen VI-related myopathies.

E. Bertini, M. Pane, E. Mercuri, 2013, Brain : a journal of neurology.

A mouse 3T6 fibroblast cell culture model for the study of normal and protein-engineered collagen synthesis and deposition into the extracellular matrix.

J. Bateman, S. Lamandé, 1993, Matrix.

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency.

H. Dahl, E. Byrne, J. Bateman, 1998, Human molecular genetics.

Genomic sequence of mouse COL1A1 encoding the collagen propeptides.

R. Jaenisch, J. Bateman, S. Lamandé, 1993, Biochimica et biophysica acta.

Resveratrol Promotes Hypertrophy in Wildtype Skeletal Muscle and Reduces Muscle Necrosis and Gene Expression of Inflammatory Markers in Mdx Mice

S. Lamandé, C. Coles, K. Woodman, 2021, Molecules.

Expression profiling in exercised mdx suggests a role for extracellular proteins in the dystrophic muscle immune response.

L. Gordon, G. Smythe, T. Webster, 2019, Human molecular genetics.

Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications

M. Capulli, A. Teti, A. Maurizi, 2019, Bone Research.

Multiscale Strain Transfer in Cartilage

K. Stok, S. Lamandé, Manuela A. Boos, 2022, Frontiers in Cell and Developmental Biology.

Contrast-Enhanced Micro–Computed Tomography for 3D Visualization and Quantification of Glycosaminoglycans in Different Cartilage Types

M. Grinstaff, K. Stok, S. Lamandé, 2021, Cartilage.

A novel device for investigating structure-function relationships and mechanoadaptation of biological tissues.

C. Nowell, K. Stok, S. Lamandé, 2023, Journal of the mechanical behavior of biomedical materials.

Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy*

K. North, C. Baldock, J. Bateman, 2010, The Journal of Biological Chemistry.

XBP1s-Mediated ER Proteostasis Network Enhancement Can Selectively Improve the Folding and Secretion of an Osteogenesis Imperfecta-Causing Collagen-I Variant

Vincent L. Butty, D. Eyre, M. Shoulders, 2023, bioRxiv.

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

D. MacArthur, E. Hoffman, M. Lek, 2016, Annals of neurology.

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

T. Roscioli, T. Cox, A. Bankier, 2005, Journal of Medical Genetics.

The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2 +/p.G610C ) mice

N. Sims, J. Bateman, L. Rowley, 2022, bioRxiv.

Effect of rapamycin on bone mass and strength in the α2(I)‐G610C mouse model of osteogenesis imperfecta

N. Sims, A. Maurizi, A. Schindeler, 2018, Journal of cellular and molecular medicine.

Proteasomal degradation of unassembled mutant type I collagen pro-alpha1(I) chains.

J. Bateman, S. Lamandé, J. Fitzgerald, 1999, The Journal of biological chemistry.

The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line.

E. Stanley, S. Howden, A. Elefanty, 2019, Stem cell research.

Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing.

E. Stanley, A. Elefanty, J. Bateman, 2019, Stem cell research.

The Role of the α3(VI) Chain in Collagen VI Assembly

R. Timpl, J. Bateman, E. Sigalas, 1998, The Journal of Biological Chemistry.

A Disintegrin and Metalloproteinase with Thrombospondin Motifs-5 (ADAMTS-5) Forms Catalytically Active Oligomers*

A. Fosang, V. Russo, H. Stanton, 2015, The Journal of Biological Chemistry.

CRISPR/Cas9 gene editing of a SOX9 reporter human iPSC line to produce two TRPV4 patient heterozygous missense mutant iPSC lines, MCRIi001-A-3 (TRPV4 p.F273L) and MCRIi001-A-4 (TRPV4 p.P799L).

E. Stanley, A. Elefanty, J. Lilianty, 2020, Stem Cell Research.

A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta.

W. Cole, H. Dahl, J. Bateman, 1989, The Journal of biological chemistry.

Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA.

W. Cole, H. Dahl, J. Bateman, 1988, The Journal of biological chemistry.

Substitution of Arginine for Glycine 664 in the Collagen d(1) Chain in Lethal Perinatal

W. Cole, J. Bateman, D. Chan, 1988 .

Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing.

J. Lilianty, J. Bateman, S. Lamandé, 2021, Stem Cell Research.

Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.

S. Howden, K. North, M. Ryan, 2021, Stem Cell Research.

Generation of a miR-26b stem-loop knockout human iPSC line, MCRIi019-A-1, using CRISPR/Cas9 editing.

C. Little, J. Bateman, S. Lamandé, 2020, Stem cell research.

CRISPR/Cas9 editing to generate a heterozygous COL2A1 p.G1170S human chondrodysplasia iPSC line, MCRIi019-A-2, in a control iPSC line, MCRIi019-A.

M. Shoulders, Kathryn Yammine, J. Bateman, 2020, Stem cell research.

Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis.

M. Shoulders, Kathryn Yammine, J. Bateman, 2023, Stem cell research.

Biochemical Heterogeneity of Type I Collagen Mutations in Osteogenesis Imperfecta a

W. Cole, J. Bateman, D. Chan, 1988, Annals of the New York Academy of Sciences.

Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly

R. Savarirayan, J. Bateman, S. Freddi, 2004, Human mutation.

Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy*

K. North, C. Baldock, J. Bateman, 2010, The Journal of Biological Chemistry.

Circadian time series proteomics reveals daily dynamics in cartilage physiology

K. Kadler, C. Angelucci, V. Mallikarjun, 2021, Osteoarthritis and cartilage.

Natural history of pulmonary function in collagen VI-related myopathies.

E. Bertini, M. Pane, E. Mercuri, 2013, Brain : a journal of neurology.

Modeling human skeletal development using human pluripotent stem cells

E. Stanley, A. Elefanty, Elizabeth S. Ng, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Benfotiamine improves dystrophic pathology and exercise capacity in mdx mice by reducing inflammation and fibrosis

R. Crosbie, S. Lamandé, K. Woodman, 2024, Human molecular genetics.