The Extracellular Matrix in Genetic Skeletal Disorders

Prof. Antonio Rossi is professor of Biochemistry at the Department of Molecular Medicine of the University of Pavia (Italy). He obtained his PhD in Biochemistry at the University of Pavia in 1992 working on the molecular basis of the brittle bone disease, Osteogenesis Imperfecta. After the PhD, his research has focused on biochemical and molecular studies of genetic skeletal disorders caused by defects in proteoglycan metabolism with major interests on heritable diseases linked to GAG synthesis and sulfation using in vitro and in vivo models. The final objective is to elucidate the molecular basis of skeletal disorders in order to develop therapeutical approaches and get insight on structure-function relationships of ECM components. In the same field, he preserves collaborations with several national and international research groups. He has been president of the Italian Society for Matrix Biology (Società Italiana per lo Studio del Connettivo, SISC) from 2011 to 2016. He has authored more than 90 peer-review research papers in the matrix biology field. He is academic editor and editorial board member of several international peer-reviewed journals.

Prof. Frank Zaucke is head of the Dr. Rolf M. Schwiete Research Unit for Osteoarthritis in the Department of Trauma Surgery and Orthopedics at the University Hospital belonging to the Goethe University Frankfurt in Germany. He studied Biology at the University of Karlsruhe in Germany and completed his dissertation at the Institute of Genetics and Toxicology. After receiving his PhD in 1997, he moved to the University of Cologne where he was working with Prof. Mats Paulsson in the Center for Biochemistry at the Medical Faculty. Here, he developed his research profile focusing on skeletal development, molecular pathomechanisms of skeletal disorders and the biochemistry of the cartilage extracellular matrix. He completed his habilitation in biochemistry and molecular biology in 2010. Six years later, he moved to Frankfurt where he established a research unit dedicated to the different aspects of osteoarthritis. He is internationally well-connected and member of many scientific societies. He is currently vice-president of the German Society for Matrix Biology and serves as editorial board member for several scientific journals. He published more than 100 peer-reviewed articles and his research is mainly funded by the German Research Foundation and the European Union.

Part I: ECM proteins and skeletal disorders.- Chapter 1: Extracellular matrix and skeletal dysplasias.- Chapter 2: Osteogenesis imperfecta and related diseases - collagen I alterations in skeletal and extraskeletal tissues.- Chapter 3: Bone involvement in the Ehlers-Danlos syndromes.- Chapter 4: Collagen II mutations in inherited cartilage diseases: our current understanding of genotype-phenotype correlations.- Chapter 5: Skeletal disorders linked to GAG synthesis.- Chapter 6: GAG sulfation and skeletal disorders.- Chapter 7: The fibrillinopathies - fibrillin-dependent skeletal dysplasias affecting long bone growth.- Part II: ECM signaling and skeletal disorders.- Chapter 8: FGF signaling: a key pathway during skeletal development.- Chapter 9: Impaired Wnt signaling as a cause of skeletal disorders.- Chapter 10: The skeletal ciliopathies.- Part III: Intracellular trafficking of ECM proteins and related skeletal disorders.- Chapter 11: Microtubule-associated motor proteins in skeletal development and health.- Chapter 12: COG4  variant and Saul-Wilson Syndrome.- 13: Membrane trafficking to the extracellular matrix and skeletal dysplasia.