Steps in the Phosphorylation of the High Mannose Oligosaccharides of Lysosomal Enzymes, Ciba Found Symp, vol.63, issue.92, pp.138-56, 1982. ,
DOI : 10.1172/JCI109341
Lysosomal enzyme targeting. N-Acetylglucosaminylphosphotransferase selectively phosphorylates native lysosomal enzymes, J Biol Chemi, vol.256, issue.23, pp.11977-80, 1981. ,
Mucolipidosis II is caused by mutations in GNPTA encoding the ??/?? GlcNAc-1-phosphotransferase, Nature Medicine, vol.368, issue.10, pp.1109-1121, 2005. ,
DOI : 10.1042/bj20020249
The alpha-and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglu- cosamine-1-phosphotransferase are encoded by a single cDNA ,
-Acetylglucosamine-1-phosphotransferase, Journal of Biological Chemistry, vol.267, issue.5, pp.3360-70, 2010. ,
DOI : 10.1074/jbc.272.2.852
A Key Enzyme in the Biogenesis of Lysosomes Is a Protease That Regulates Cholesterol Metabolism, Science, vol.137, issue.3, pp.87-90, 2011. ,
DOI : 10.1002/ajmg.a.30868
Mannose phosphorylation in health and disease, European Journal of Cell Biology, vol.89, issue.1, pp.117-140, 2010. ,
DOI : 10.1016/j.ejcb.2009.10.008
Mucolipidosis II, GeneReviews 1 [Internet], 1993. ,
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands, Journal of Medical Genetics, vol.47, issue.1, pp.38-48, 2010. ,
DOI : 10.1136/jmg.2009.067736
Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase ??/?????Subunits Precursor Gene, The American Journal of Human Genetics, vol.78, issue.3, pp.451-63, 2006. ,
DOI : 10.1086/500849
The natural history and osteodystrophy of mucolipidosis types II and III, Journal of Paediatrics and Child Health, vol.33, issue.6, pp.316-338, 2010. ,
DOI : 10.2214/ajr.118.1.213
Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body, J Perinatol, vol.16, issue.5, pp.400-402, 1996. ,
Neonatal presentation of I-cell disease, The Journal of Pediatrics, vol.93, issue.6, pp.954-962, 1978. ,
DOI : 10.1016/S0022-3476(78)81218-9
Altered Chondrocyte Differentiation and Extracellular Matrix Homeostasis in a Zebrafish Model for Mucolipidosis II, The American Journal of Pathology, vol.175, issue.5, pp.2063-75, 2009. ,
DOI : 10.2353/ajpath.2009.090210
Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II, Disease Models & Mechanisms, vol.5, issue.2, pp.177-90, 2012. ,
DOI : 10.1242/dmm.008219
In Vivo Imaging of Embryonic Vascular Development Using Transgenic Zebrafish, Developmental Biology, vol.248, issue.2, pp.307-325, 2002. ,
DOI : 10.1006/dbio.2002.0711
Zebrafish sp7:EGFP: A transgenic for studying otic vesicle formation, skeletogenesis, and bone regeneration, genesis, vol.329, issue.8, pp.505-516, 2010. ,
DOI : 10.1002/aja.1002030302
Dynamic smad-mediated BMP signaling revealed through transgenic zebrafish, Developmental Dynamics, vol.1, issue.Pt 2, pp.712-734, 2011. ,
DOI : 10.1016/S1097-2765(00)80061-1
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072245/pdf
New tools for studying osteoarthritis genetics in zebrafish, Osteoarthritis and Cartilage, vol.21, issue.2, pp.269-78, 2013. ,
DOI : 10.1016/j.joca.2012.11.004
Stages of embryonic development of the zebrafish, Developmental Dynamics, vol.102, issue.3, pp.253-310, 1995. ,
DOI : 10.1016/0168-9525(93)90039-K
The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation, Dis Model Mech, vol.3, pp.5-6354, 2010. ,
DOI : 10.1242/dmm.003194
URL : http://dmm.biologists.org/content/dmm/3/5-6/354.full.pdf
High-resolution in situ hybridization to whole-mount zebrafish embryos, Nature Protocols, vol.75, issue.1, pp.59-69, 2008. ,
DOI : 10.1038/nprot.2007.514
Tracking gene expression during zebrafish osteoblast differentiation, Developmental Dynamics, vol.328, issue.2, pp.459-66, 2009. ,
DOI : 10.1016/j.bbrc.2004.11.067
Characterization of dermacan, a novel zebrafish lectican gene, expressed in dermal bones, Mechanisms of Development, vol.121, issue.3, pp.301-313, 2004. ,
DOI : 10.1016/j.mod.2004.01.007
Development of Cartilage and Bone, Methods Cell Biol, vol.76, pp.415-451, 2004. ,
DOI : 10.1016/S0091-679X(04)76018-5
The control of chondrogenesis, Journal of Cellular Biochemistry, vol.28, issue.1, pp.33-44, 2006. ,
DOI : 10.1002/aja.1001990206
Sox9 is required for cartilage formation, Nature Genetics, vol.1130, issue.1, pp.85-94, 1999. ,
DOI : 10.1016/0167-4781(92)90465-C
Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization, Proceedings of the National Academy of Sciences, vol.17, issue.19, pp.6698-703, 2001. ,
DOI : 10.1093/emboj/17.19.5718
A pair of Sox: distinct and overlapping functions of zebrafish sox9 co-orthologs in craniofacial and pectoral fin development, Development, vol.132, issue.5, pp.1069-83, 2005. ,
DOI : 10.1242/dev.01674
Bone Development, Annual Review of Cell and Developmental Biology, vol.16, issue.1, pp.191-220, 2000. ,
DOI : 10.1146/annurev.cellbio.16.1.191
URL : https://hal.archives-ouvertes.fr/hal-00306959
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II, EMBO Molecular Medicine, vol.17, issue.12, pp.1871-86, 2013. ,
DOI : 10.1038/nm.2448
URL : http://embomolmed.embopress.org/content/embomm/5/12/1871.full.pdf
Inheritance, Biochemical Abnormalities, and Clinical Features of Feline Mucolipidosis II: The First Animal Model of Human I-Cell Disease, Journal of Heredity, vol.94, issue.5, pp.363-73, 2003. ,
DOI : 10.1093/jhered/esg080
A zebrafish sox9 gene required for cartilage morphogenesis, Development, vol.129, issue.21, pp.5065-79, 2002. ,
The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module, Proceedings of the National Academy of Sciences, vol.203, issue.3, pp.10246-51, 2013. ,
DOI : 10.1002/aja.1002030302
A two-color acid-free cartilage and bone stain for zebrafish larvae, Biotechnic & Histochemistry, vol.295, issue.1, pp.23-31, 2007. ,
DOI : 10.1016/j.ydbio.2006.03.028
Smad3 Induces Chondrogenesis through the Activation of SOX9 via CREB-binding Protein/p300 Recruitment, Journal of Biological Chemistry, vol.19, issue.9, pp.8343-50, 2005. ,
DOI : 10.1074/jbc.M005724200
Biochemical properties and regulation of cathepsin K activity, Biochimie, vol.90, issue.2, pp.208-234, 2008. ,
DOI : 10.1016/j.biochi.2007.08.011
Selective Yolk Deposition and Mannose Phosphorylation of Lysosomal Glycosidases in Zebrafish, Journal of Biological Chemistry, vol.266, issue.43, pp.32946-53, 2010. ,
DOI : 10.1042/BJ20030413
Unchaining the beast; insights from structural and evolutionary studies on TGF?? secretion, sequestration, and activation, Cytokine & Growth Factor Reviews, vol.24, issue.4, pp.355-72, 2013. ,
DOI : 10.1016/j.cytogfr.2013.06.003
An Assay for Transforming Growth Factor-?? Using Cells Transfected with a Plasminogen Activator Inhibitor-1 Promoter-Luciferase Construct, Analytical Biochemistry, vol.216, issue.2, pp.276-84, 1994. ,
DOI : 10.1006/abio.1994.1042
A role of the latent TGF-beta 1-binding protein in the assembly and secretion of TGF-beta 1, EMBO J, vol.10, issue.5, pp.1091-101, 1991. ,
A rapid and sensitive bioassay to measure bone morphogenetic protein activity, BMC Cell Biology, vol.8, issue.1, p.41, 2007. ,
DOI : 10.1186/1471-2121-8-41
URL : https://bmccellbiol.biomedcentral.com/track/pdf/10.1186/1471-2121-8-41?site=bmccellbiol.biomedcentral.com
Smad3 activates the Sox9-dependent transcription on chromatin, The International Journal of Biochemistry & Cell Biology, vol.41, issue.5, pp.1198-204, 2009. ,
DOI : 10.1016/j.biocel.2008.10.032
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674534/pdf
Analysis of the molecular cascade responsible for mesodermal limb chondrogenesis: sox genes and BMP signaling, Developmental Biology, vol.257, issue.2, pp.292-301, 2003. ,
DOI : 10.1016/S0012-1606(03)00066-6
Disruption of the Man-6-P Targeting Pathway in Mice Impairs Osteoclast Secretory Lysosome Biogenesis, Traffic, vol.258, issue.7, pp.912-936, 2011. ,
DOI : 10.1091/mbc.E09-05-0398
Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions, The Journal of Cell Biology, vol.256, issue.2, pp.171-80, 2015. ,
DOI : 10.1083/jcb.201407077.dv
TGF-?? in the pathogenesis and prevention of disease: a matter of aneurysmic proportions, Journal of Clinical Investigation, vol.120, issue.2, pp.403-410, 2010. ,
DOI : 10.1172/JCI42014
Mutations in the gene encoding the latency-associated peptide of TGF-??1 cause Camurati-Engelmann disease, Nature Genetics, vol.26, issue.3, pp.273-278, 2000. ,
DOI : 10.1038/79128
Transforming Growth Factor-??1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering either Activation or Secretion of the Mutant Protein, Journal of Biological Chemistry, vol.267, issue.9, pp.7718-7742, 2003. ,
DOI : 10.1084/jem.20011521
-mediated activation of latent TGF-?? requires the latent TGF-?? binding protein-1, The Journal of Cell Biology, vol.269, issue.5, pp.723-757, 2004. ,
DOI : 10.1073/pnas.87.22.8835
TGF-beta signaling in chondrocyte terminal differentiation and osteoarthritis, Osteoarthritis and Cartilage, vol.17, issue.12, pp.1539-1584, 2009. ,
DOI : 10.1016/j.joca.2009.06.008
Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis, Fibrogenesis & Tissue Repair, vol.3, issue.1, p.24, 2010. ,
DOI : 10.1186/1755-1536-3-24
Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis, Development, vol.132, issue.17, pp.3989-4003, 2005. ,
DOI : 10.1242/dev.01948
Collagenase Activity of Cathepsin K Depends on Complex Formation with Chondroitin Sulfate, Journal of Biological Chemistry, vol.280, issue.32, pp.28669-76, 2002. ,
DOI : 10.1074/jbc.C000278200
Excessive transforming growth factor-?? signaling is a common mechanism in osteogenesis imperfecta, Nature Medicine, vol.144, issue.6, pp.670-675, 2014. ,
DOI : 10.1016/0076-6879(87)44176-1
Dysregulation of TGF-?? activation contributes to pathogenesis in Marfan syndrome, Nature Genetics, vol.57, issue.3, pp.407-418, 2003. ,
DOI : 10.1161/01.RES.88.1.37
Angiotensin II???dependent TGF-?? signaling contributes to Loeys-Dietz syndrome vascular pathogenesis, Journal of Clinical Investigation, vol.124, issue.1, pp.448-60, 2014. ,
DOI : 10.1172/JCI69666DS1
Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome, Science, vol.312, issue.5770, pp.117-138, 2006. ,
DOI : 10.1126/science.1124287
Noncanonical TGF?? Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice, Science, vol.218, issue.1, pp.358-61, 2011. ,
DOI : 10.1002/path.2516
Targeting TGF-?? and the Extracellular Matrix in Marfan's Syndrome, Developmental Cell, vol.15, issue.1, pp.1-2, 2008. ,
DOI : 10.1016/j.devcel.2008.06.005
Outcomes after Hematopoietic Stem Cell Transplantation for Children with I-Cell Disease, Biology of Blood and Marrow Transplantation, vol.20, issue.11, pp.1847-51, 2014. ,
DOI : 10.1016/j.bbmt.2014.06.019