Reply to Sabatelli et al.: Detecting Collagen VI in Bethlem Myopathy

Por Lamandé, Shireen R.
Publicado no J Biol Chem (2015)

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

Por Woodman, Keryn G., Coles, Chantal A., Lamandé, Shireen R., White, Jason D.
Publicado no Nutrients (2016)

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

Por Zamurs, Laura K., Idoate, Miguel A., Hanssen, Eric, Gomez-Ibañez, Asier, Pastor, Pau, Lamandé, Shireen R.
Publicado no J Biol Chem (2015)

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

Por Tan, Jacqueline T., Kremer, Friederike, Freddi, Susanna, Bell, Katrina M., Baker, Naomi L., Lamandé, Shireen R., Bateman, John F.
Publicado em 2008

Autophagic Elimination of Misfolded Procollagen Aggregates in the Endoplasmic Reticulum as a Means of Cell Protection

Por Ishida, Yoshihito, Yamamoto, Akitsugu, Kitamura, Akira, Lamandé, Shireen R., Yoshimori, Tamotsu, Bateman, John F., Kubota, Hiroshi, Nagata, Kazuhiro
Publicado em 2009

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

Por Allen, Justin M., Zamurs, Laura, Brachvogel, Bent, Schlötzer-Schrehardt, Ursula, Hansen, Uwe, Lamandé, Shireen R., Rowley, Lynn, Fitzgerald, Jamie, Bateman, John F.
Publicado em 2009

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

Por Risteli, Maija, Ruotsalainen, Heli, Salo, Antti M., Sormunen, Raija, Sipilä, Laura, Baker, Naomi L., Lamandé, Shireen R., Vimpari-Kauppinen, Leena, Myllylä, Raili
Publicado em 2009

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

Por Peat, Rachel A., Gécz, Jozef, Fallon, Justin R., Tarpey, Patrick S., Smith, Raffaella, Futreal, Andrew, Stratton, Michael R., Lamandé, Shireen R., Yang, Nan, North, Kathryn N.
Publicado em 2008

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

Por Tooley, Leona D., Zamurs, Laura K., Beecher, Nicola, Baker, Naomi L., Peat, Rachel A., Adams, Naomi E., Bateman, John F., North, Kathryn N., Baldock, Clair, Lamandé, Shireen R.
Publicado em 2010

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

Por Kosasih, Hansen J., Last, Karena, Rogerson, Fraser M., Golub, Suzanne B., Gauci, Stephanie J., Russo, Vincenzo C., Stanton, Heather, Wilson, Richard, Lamande, Shireen R., Holden, Paul, Fosang, Amanda J.
Publicado no J Biol Chem (2016)

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Por Andreucci, Elena, Aftimos, Salim, Alcausin, Melanie, Haan, Eric, Hunter, Warwick, Kannu, Peter, Kerr, Bronwyn, McGillivray, George, Gardner, RJ McKinlay, Patricelli, Maria G, Sillence, David, Thompson, Elizabeth, Zacharin, Margaret, Zankl, Andreas, Lamandé, Shireen R, Savarirayan, Ravi
Publicado em 2011

Collagen VI Glycine Mutations: Perturbed Assembly and a Spectrum of Clinical Severity

Por Pace, Rishika A., Peat, Rachel A., Baker, Naomi L., Zamurs, Laura, Mörgelin, Matthias, Irving, Melita, Adams, Naomi E., Bateman, John F., Mowat, David, Smith, Nicholas J. C., Lamont, Phillipa J., Moore, Steven A., Mathews, Katherine D., North, Kathryn N., Lamandé, Shireen R.
Publicado em 2008

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

Por Kao, Tim, Labonne, Tanya, Niclis, Jonathan C., Chaurasia, Ritu, Lokmic, Zerina, Qian, Elizabeth, Bruveris, Freya F., Howden, Sara E., Motazedian, Ali, Schiesser, Jacqueline V., Costa, Magdaline, Sourris, Koula, Ng, Elizabeth, Anderson, David, Giudice, Antonietta, Farlie, Peter, Cheung, Michael, Lamande, Shireen R., Penington, Anthony J., Parish, Clare L., Thomson, Lachlan H., Rafii, Arash, Elliott, David A., Elefanty, Andrew G., Stanley, Edouard G.
Publicado no Stem Cell Reports (2016)