W. A. Cabral

P. Fratzl, T. Bhattacharyya, Heeseog Kang, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mineral and Matrix Changes in Brtl/+ Teeth Provide Insights into Mineralization Mechanisms

A. Boskey, E. Beniash, J. Marini, 2013, BioMed research international.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

D. Eyre, I. Kennerknecht, A. Janecke, 2016, Nature Communications.

Heterogeneous basis of the type VIB form of Ehlers–Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation

G. Pals, M. Yamauchi, M. Willing, 2004, American journal of medical genetics. Part A.

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations

S. Bale, M. Gambello, D. Eyre, 2013, Human mutation.

New perspectives on osteogenesis imperfecta

Joan C. Marini, A. Forlino, J. Marini, 2011, Nature Reviews Endocrinology.

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen

L. Tosi, A. Forlino, J. Marini, 1998, Human mutation.

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.

Wei-zhong Chang, J. Bodurtha, J. Marini, 2010, Human molecular genetics.

Recessive Osteogenesis Imperfecta: Prevalence and Pathophysiology of Collagen Prolyl-3-Hydroxylation Complex Defects

W. A. Cabral, 2014 .

G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix.

J. Marini, W. A. Cabral, E. Chernoff, 2001, Molecular genetics and metabolism.

Abnormal Type I Collagen Post-translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta

K. Tomer, M. Yamauchi, D. Eyre, 2014, PLoS genetics.

Mapping of SPARC/BM-40/Osteonectin-binding Sites on Fibrillar Collagens*

R. Timpl, Takako Sasaki, H. Bächinger, 2008, Journal of Biological Chemistry.

In Vivo Base Editing Rescues Hutchinson-Gilford Progeria Syndrome in Mice

David R. Liu, Gregory A. Newby, Luke W. Koblan, 2020, Nature.

Somatic activating mutations in MAP2K1 cause melorheostosis

T. Bhattacharyya, R. Siegel, Heeseog Kang, 2018, Nature Communications.

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

F. Glorieux, P. Byers, J. Troendle, 2007, Human mutation.

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.

D. Chitayat, S. Hill, J. Marini, 2015, The Journal of clinical endocrinology and metabolism.

COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing.

D. Eyre, S. Leikin, A. Ashok, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix.

S. Leikin, J. Marini, Sergey Leikin, 2006, The Journal of biological chemistry.

Cyclophilin B control of lysine post-translational modifications of skin type I collagen

M. Yamauchi, N. Maeda, S. Hattori, 2019, PLoS genetics.

Cyclophilin B Deficiency Causes Abnormal Dentin Collagen Matrix.

M. Yamauchi, S. Hattori, Y. Taga, 2017, Journal of proteome research.

Cyclophilin-B Modulates Collagen Cross-linking by Differentially Affecting Lysine Hydroxylation in the Helical and Telopeptidyl Domains of Tendon Type I Collagen*

M. Yamauchi, J. Kurie, Yulong Chen, 2016, The Journal of Biological Chemistry.

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

J. Marini, W. Cabral, A. M. Barnes, 2009, Cell and Tissue Research.

A targeted antisense therapeutic approach for Hutchinson–Gilford progeria syndrome

M. Erdos, N. Narisu, R. Kole, 2021, Nature Medicine.

Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups

F. Collins, M. Erdos, B. Snyder, 2020, Proceedings of the National Academy of Sciences.

Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors

A. Forlino, G. Gronowicz, J. Marini, 2008, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

S. Stewart, N. Crabtree, T. Cole, 2017, The Journal of clinical endocrinology and metabolism.

Cortical bone properties in the Brtl/+ mouse model of Osteogenesis imperfecta as evidenced by acoustic transmission microscopy.

P. Fratzl, A. Roschger, P. Roschger, 2019, Journal of the mechanical behavior of biomedical materials.

Structural Heterogeneity of Type I Collagen Triple Helix and Its Role in Osteogenesis Imperfecta*

Joan C. Marini, S. Leikin, M. Sutter, 2008, Journal of Biological Chemistry.

Components of the Collagen Prolyl 3-Hydroxylation Complex are Crucial for Normal Bone Development

Wei-zhong Chang, J. Marini, W. Cabral, 2007, Cell cycle.

A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium‐Derived Factor

C. Farber, F. Glorieux, A. Quinlan, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Alzheimer's disease‐causing proline substitutions lead to presenilin 1 aggregation and malfunction

I. Slutsky, D. Friedmann-Morvinski, E. Cohen, 2015, The EMBO journal.

In vivo base editing rescues Hutchinson–Gilford progeria syndrome in mice

Gregory A. Newby, Luke W. Koblan, M. Erdos, 2021, Nature.

Somatic activating mutations in MAP2K1 cause melorheostosis

T. Bhattacharyya, R. Siegel, Heeseog Kang, 2018, Nature Communications.

Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis

J. Marini, S. Milgrom, A. Letocha, 2006, Journal of Medical Genetics.

Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model.

S. Leikin, A. Forlino, J. Marini, 2004, Matrix biology : journal of the International Society for Matrix Biology.

Procollagen with Skipping of α1(I) Exon 41 Has Lower Binding Affinity for α1(I) C-telopeptide, Impaired in Vitro Fibrillogenesis, and Altered Fibril Morphology*

L. K. Green, A. Fertala, A. Forlino, 2002, The Journal of Biological Chemistry.