14. BIBLIOGRAFÍA Y REFERENCIAS CITADAS

Transcription

1 14. BIBLIOGRAFÍA Y REFERENCIAS CITADAS Ahn AH y Kunkel LM Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol. 128: Ailhaud G y Hauner H. Development of white adipose tissue. Handbook of Obesity (G. Bray, C. Bouchard, P.T. James, eds.), M. Dekker Inc., New York, (USA). 1997: Anderson JT, Rogers RP y Jarrett HW Ca2+-calmodulin binds to the carboxyl-terminal domain of dystrophin. J Biol Chem. 271: Albright AL y Stern JS Adipose tissue. Encyclopedia of Sports Medicine and Science. Internet Society for Sport Science. URL: Barresi R, Moore SA, Stolle CA, Mendell JR y Campbell KP Expression of ζ sarcoglycan in smooth muscle and it s interaction with smooth muscle sarcoglycan-sarcospan complex. J Biol Chem. 275(49): Berditchevski F, Odintsova E, Sawada S y Gilbert E Expression of the palmitoylation-deficient CD151 weakens the association of alpha 3 beta 1 integrin with the tetraspanin-enriched microdomains and affects integrin-dependent signaling. J Biol Chem. 277(40): Blake DJ, Nawrotzki R, Loh NY, Gorecki DC y Davies KE β dystrobrevin, a member of the dystrophin-related protein family. Proc Natl Acad Sci USA. 95: Brenman JE, Chao DS, Xia H, Aldape K y Bredt DS Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell. 82: Brenman JE, Chao DS, Gee SH, McGee AW, Craven SE, Santillano DR, Wu Z, Huang F, Xia H, Peters MF, Froehner SC y Bredt DS Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha1-syntrophin mediated by PDZ domains. Cell. 84: Bushby K. Genetics and the muscular dystrophies Dev. Med.Child Neurol. 42: Campbell K. P Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell. 80: Campbell KP y Kahl SD Association of dystrophin and an integral membrane glycoprotein. Nature. 338: Campbell KP, Lebakken C, Crosbie R y Roger W Sarcospan-deficient mouse as a model for clinical disorders associated with sarcospan mutations. United States Patent : Chan YM, Bonnemann CG, Lidov HG y Kunkel LM Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol. 143(7): Chelly J, Concordet JP, Kaplan JC y Kahn A Illegitimate transcription: transcription of any gene in any cell type. Proc Natl Acad. Sci USA. 86:

2 Chomczyski P y Sacchi M Single-step extraction of RNA by guanidinium thiocyanate-phenolchloroform. Anal Biochem. 162: Cohn RD y Campbell KP Molecular basis of muscular dystrophies. Muscle Nerve. 23: Cordier L, Hack AA, Scott MO, Barton-Davis ER, Gao G, Wilson JM, McNally EM y Sweeney HL Rescue of skeletal muscles of gamma-sarcoglycan-deficient mice with adeno-associated virus mediated gene transfer. Mol Ther. 1: Crosbie RH, Heighway J, Venzke DP, Lee JC y Campbell KP Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex. J Biol Chem. 272(50): Crosbie RH, Lebakken CS, Holt KH, Venzke DP, Straub V, Lee JC, Grady MR, Chamberlain JS, Sanes JR y Campbell KP Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex. J Cell Biol. 145(1): Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tomé FMS y Campbell KP Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Hum Mol Genet. 9(13): Dalkilic I y Kunkel LM Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Dev. 13: Disatnik MH, Chamberlain JS y Rando TA Dystrophin mutations predict cellular susceptibility to oxidative stress. Muscle Nerve. 23: Dixon AK, Tait TM, Campbell EA, Bobrow M, Roberts RG y Freeman TC Expression of the dystrophin-related protein 2 (DRP2) transcript in the mouse. J Mol Biol. 270: Duggan DJ, Gorospe JR, Fanin M, Hoffman EP y Angelini C Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med. 336: Durbeej M, Larsson E, Ibraghimov-Beskrovnaya O, Roberds SL, Campbell KP y Ekblom P Nonmuscle α dystroglycan is involved in epithelial development. J Cell Biol. 130: Durbeej M y Campbell KP Biochemical characterization of the epithelial dystroglycan complex. J Biol Chem. 274(37): Durbeej M y Campbell KP Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. Curr Opin Genet Dev. 12: Durbeej M, Sawatzki SM, Barresi R, Schmainda KM, Allamand V, Michele DE y Campbell KP Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy. PNAS. 100(15): Emery AEH The muscular dystrophies. Lancet. 359: Ervasti JM y Campbell KP Membrane organization of the dystrophin-glycoprotein complex. Cell. 66: Ervasti JM y Campbell KP A role of the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol. 122(4):

3 Ettinger AJ, Feng G y Sanes JR ε sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. J Biol Chem. 272: Fong PY, Turner PR, Denetclaw WF y Steinhardt RA Increased activity of calcium leak channels in myotubes of Duchenne human and mdx mouse origin. Science. 250: Gregoire F, Smas C y Sul HS Understanding adipocyte differentiation. Physiol Rev. 78: Guyton Arthur C. Tratado de Fisiología Médica. Interamericana McGraw-Hill. 8º edición. Madrid (España), 1992: 71. Hack AA, Cordier L, Shoturma DI, Lam MY, Sweeney HL y McNally EM Muscle degeneration without mechanical injury in sarcoglycan deficiency. Proc Natl Acad Sci USA. 96: Hack AA, Lam MYJ, Cordier L, Shoturma DI, Ly CT, Hadhazy MA, Hadhazy MR, Sweeney L y McNally EM Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci. 113: Heighway J, Betticher DC, Hoban PR, Altermatt HJ y Cowen R Coamplification in tumors of KRAS2, type 2 inositol 1,4,5 triphosphate receptor gene, and a novel human gene, KRAG. Genomics. 35(1): Henry MD y Campbell KP Dystroglycan inside out. Curr Opin Cell Biol. 11: Hoffman EP, Brown RH y Kunkel LM Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 51(6): Holt KH, Crosbie RH, Venzke DP y Campbell KP Biosynthesis of dystroglycan: processing of a precursor propeptide. FEBS Lett. 468: Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaugther CA, Sernett SW y Campbell KP Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature. 355: Ibraghimov-Beskrovnaya O, Milatovich A, Ozcelik T, Yang B, Koepnick K, Francke U y Campbell KP Human dystroglycan: skeletal muscle cdna, genomic structure, origin of tissue specific isoforms and chromosomal localization. Hum Mol Genet. 2: Imamura M, Araishi K, Noguchi S y Ozawa E A sarcoglycan-dystroglycan complex anchors Dp116 and utrophin in the peripheral nervous system. Hum Mol Genet. 9(20): Jung D, Yang B, Meyer J, Chamberlain JS y Campbell KP Identification and characterization of the dystrophin anchoring site on β dystroglycan. J Biol Chem. 270: Koening M, Monaco AP y Kunkel LM The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 53: Koenig C Tejido Muscular. Histología UC. Oficina de Educación Médica. Universidad Católica de Chile. URL: Lapidos KA, Kakkar R y McNally EM The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circul Res. 94:

4 Lebakken CS, Venzke DP, Hrstka RF, Consolino CM, Faulkner JA, Williamson RA y Campbell KP Sarcospan-deficient mice maintain normal muscle function. Mol Cell Biol. 20(5): Lidov HG y Kunkel LM Dp140: alternatively spliced isoforms in brain and kidney. Genomics. 45: Liu LA y Engwall E Sarcoglycan isoforms in skeletal muscle. J Biol Chem. 274(53): Liu L, Vachon PH, Kuang W, Xu H, Wewer UM, Kylsten P y Engwall E Mouse adhalin: primary structure and expression during late stages of muscle differentiation in vitro. Biochem Biophys Res Commun. 235: Love DR, Morris GE, Ellis JM, Fairbrother U, Marsden RF, Bloomfield JF, Edwards YH, Slater CP, Parry DJ y Davies KE Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouse. Proc Natl Acad Sci USA. 88: Maecker HT, Todd SC y Levy S The tetraspanin superfamily: molecular facilitators. FASEB J. 11: Margareto J, Gomez-Ambrosi J, Marti A y Martínez JA Time dependent effects of a high energy yielding diet on the regulation of specific white adipose tissue genes. Biochem Biophys Res Commun. 283: McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sa Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M y Kunkel LM Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 59: McNally EM, Ly CT y Kunkel LM Human epsilon sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb-girdle muscular dystrophy 2D gene. FEBS Lett. 422: Moreno MJ y Martínez JA Adipose tissue: a storage and secretory organ. ANALES Sis San Navarra. 25 (Supl. 1): Moustaïd-Moussa N y Berdanier CD. CRC Series in Modern Nutrition: Nutrient-Gene Interactions in Health and Disease. CRC Press LLC. Florida (EUA) 2001: Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G y Puca GA Identification of a novel sarcoglycan gene at 5q33 enconding a sarcolemmal 35 kda glycoprotein. Hum Mol Genet. 5: Noguchi S, Wakabayashi E, Imamura M, Yoshida M y Ozawa E Formation of sarcoglycan complex with differentiation in cultured myocytes. Eur J Biochem. 267: Noguchi S, Wakabayashi E, Sasaoka T y Ozawa E Análisis of the spatial, temporal and tissue specific transcription of g-sarcoglycan gene using a transgenic mouse. FEBS Lett. 495: O Brien KF, Engle EC y Louis MK Analysis of human sarcospan as a candidate gene for CFEOMI. BioMedCentral Genet. 2: 3. URL: Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y y Yoshida M From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve. 21:

5 Peters MF, Adams ME y Froehner SC Differential association of syntrophin pairs with the dystrophin complex. J Cell Biol. 138: Piccolo F, Jeanpierre M, Leturcq F, Dode C, Azibi K, Toutain A, Merlini R, Jarre L, Navarro C y Krishnamoorthy R A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet. 5: Pillers DM, Bulman DE, Weleber RG, Sigesmund DA, Musarella MA, Powell BR, Murphey WH, Westall C, Panton C y Becker LE Dystrophin expression in the human retina is required for normal function as defined by electroretinography. Nat Genet. 4: Porter JD Introduction to muscular dystrophy. Microsc Res Tech. 48: Ramírez-Sánchez I, Rosas-Vargas H, Cevallos-Reyes G, Salamanca F y Coral-Vázquez RM Expresión análisis of the SG-SSPN complex in the vascular smooth muscle and endotelial cells of human umbilical cord vessels. J Vas Res. [en prensa] Rando TA The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies. Muscle Nerve. 24: Rando TA, Disatnik MH, Yu Y y Franco A Muscle cells from mdx mice have an increased susceptibility to oxidative stress. Neuromusc Disord. 8: Roberds SL, Anderson RD, Ibraghimov-Beskrovnaya O y Campbell KP Primary structure and musclespecific expression of the 50 kda dystrophin associated glycoprotein (adhalin). J Biol Chem. 268: Roberts MBV. Biology: a functional approach. Thomas Nelson and Sons Ltd. 2º edición. Cambridge (Inglaterra) 1975: 37, Sandona D, Gastaldello S, Martinello T y Betto R Characterization of the ATP-hydrolyzing activity of alpha-sarcoglycan. Biochem J. [En prensa] Scott AF, Elizaga A, Morrell J, Bergen A y Penno MB Characterization of a gene coamplified with Kiras in Y1 murine adrenal carcinoma cells that codes for a putative membrane protein. Genomics. 20(2): Shi W, Chen Z, Schottenfeld J, Stahl Richard C, Kunkel LM y Chan YM Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. Muscle Nerve. 29: Straub V y Campbell KP Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol. 10(2): Straub V, Ettinger AJ, Durbeej M, Venzke DP, Cutshall S, Sanes JR y Campbell KP epsilonsarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex. J Biol Chem. 274(39): Suzuki A, Yoshida M y Ozawa E Mammalian α1 and β1-syntrophin bind to the alternative spliceprone region of the dystrophin COOH terminus. J Cell Biol. 128:

6 Thompson TG, Chan YM, Hack AA, Brosius M, Rajala M, Lidov HG, McNally EM, Watkins S y Kunkel LM Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein. J Cell Biol. 148: Tian M, Jacobson C, Gee SH, Campbell KP, Carbonetto S y Jucker M Dystroglycan in the cerebellum is a laminin α2-chain binding protein at the glial-vascular interface and is expressed in Purkinje cells. Eur J Neuorsci. 8: Tinsley JM, Blake DJ, Zuelling RA y Davies KE Increasing complexity of the dystrophin-associated protein complex. Proc Natl Acad Sci USA. 91: Tokarz SA, Duncan NM, Rash SM, Sadeghi A, Dewan AK y Pillers DA Redefinition of dystrophin isoform distribution in mouse tissue by RT-PCR implies role in nonmuscle manifestations of Duchenne muscular dystrophy. Mol Genet Metab. 65: Turner PR, Fong PY, Denetclaw WF y Steinhardt RA Increased calcium influx in dystrophic muscle. J Cell Biol. 115: Tyler KL Origins and early descriptions of Duchenne muscular dystrophy. Muscle Nerve. 28: Weller B, Karpati G y Carpenter S Dystrophin-deficient mdx muscle fibers are preferentially vulnerable to necrosis induced by experimental lengthening contractions. J Neurol Sci. 100(1-2): Wheeler MT, Sarnegar S y McNally EM ζ sarcoglycan a novel component of the sarcoglycan complex is reduced in muscular dystrophy. Hum Mol Genet. 11(18): Wright MD y Tomlinson MG The ins and outs of the transmembrane 4 superfamily. Immunol Today. 15: Xiao J y LeDoux MS Cloning, developmental regulation and neural localization of rat ε sarcoglycan. Mol Brain Res. 119: Yamada H, Shimizu T, Tanaka T, Campbell KP y Matsumura K Dystroglycan is a binding protein of laminin and merosin in peripheral nerve. FEBS Lett. 352: Yang B, Jung DM, Meyer J, Koretzky G y Campbell KP SH3 domain-mediated interaction of dystroglycan and Grb2. J Biol Chem. 270: Yoshida T, Hanada H, Iwata Y, Pan Y y Shigekawa M Expresión of a dystrophin-sarcoglycan complex in serum-deprived BC 3 H1 cells and involvement of α sarcoglycan in substrate attachment. Biochem Biophys Res Commun. 225: Yoshida T, Pan Y, Hanada H, Iwata Y y Shigekawa M Bidirectional signaling between sarcoglycans and the integrin adhesión system in cultured L6 myocytes. J Biol Chem. 273: Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T y Ozawa E Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. Hum Mol Genet. 9(7):

7 Zimprich A, Gravowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Wikelmann J y Muller-Myshok B Mutations in the gene encoding epsilon-sarcoglycan cause myoclonusdystonia syndrome. Nat Genet. 29: URL: Adipose Tissue. Genetics Home Reference. Unified Medical Language System (Digital Anatomist).Medline Plus. National Library of Medicine. 28/05/04. URL: Adipose Tissue. WEB MD Anatomy URL: den Dunnen J. T. Leiden Muscular Dystrophy pages. Center for Human and Clinical Genetics. Leiden University Medical Center 2004 URL: McNulty J. Histology slide series. Loyola University Medical Education Network (LUMEN). Loyola University Chicago. Strich School of Medicine. 12/08/96. URL: Mesengenesis. Technology. Osiris Therapeutics, Inc. Baltimore M.D