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RYR1

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RYR1
Identifikatori
AliasiRYR1
Vanjski ID-jeviOMIM: 180901 MGI: 99659 HomoloGene: 68069 GeneCards: RYR1
Lokacija gena (čovjek)
Hromosom 19 (čovjek)
Hrom.Hromosom 19 (čovjek)[1]
Hromosom 19 (čovjek)
Genomska lokacija za RYR1
Genomska lokacija za RYR1
Bend19q13.2Početak38,433,691 bp[1]
Kraj38,595,273 bp[1]
Lokacija gena (miš)
Hromosom 7 (miš)
Hrom.Hromosom 7 (miš)[2]
Hromosom 7 (miš)
Genomska lokacija za RYR1
Genomska lokacija za RYR1
Bend7 B1|7 16.94 cMPočetak29,003,344 bp[2]
Kraj29,125,179 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija voltage-gated calcium channel activity
calcium channel activity
calmodulin binding
protease binding
ion channel activity
GO:0001948, GO:0016582 vezivanje za proteine
vezivanje enzima
calcium-release channel activity
ryanodine-sensitive calcium-release channel activity
calcium-induced calcium release activity
calcium ion binding
nucleotide binding
ATP binding
vezivanje iona metala
Ćelijska komponenta citoplazma
integral component of membrane
membrana
I band
T-tubule
ćelijska membrana
integral component of plasma membrane
Sarkoplazmatski retikulum
junctional sarcoplasmic reticulum membrane
terminal cisterna
smooth endoplasmic reticulum
cell cortex
junctional membrane complex
Egzosom
integral component of organelle membrane
ryanodine receptor complex
sarcoplasmic reticulum membrane
Z discdkac
cytoplasmic vesicle membrane
GO:0009327 makromolekulani kompleks
Kalcijski kanal
Sarkolema
Biološki proces ossification involved in bone maturation
regulation of cardiac conduction
response to hypoxia
Mišićna kontrakcija
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
regulation of cytosolic calcium ion concentration
outflow tract morphogenesis
cellular calcium ion homeostasis
ion transport
multicellular organism development
ion transmembrane transport
skeletal muscle fiber development
calcium ion transmembrane transport
response to caffeine
calcium ion transport
skin development
transmembrane transport
cellular response to caffeine
protein homotetramerization
cellular response to calcium ion
release of sequestered calcium ion into cytosol
GO:0015915 transport
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_000540
NM_001042723

NM_009109

RefSeq (bjelančevina)

NP_000531
NP_001036188

NP_033135

Lokacija (UCSC)Chr 19: 38.43 – 38.6 MbChr 7: 29 – 29.13 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Rijanodinski receptor 1 (RYR-1), znan i kao kanal za oslobađanje kalcija iz skeletnih mišića ili receptor rijanodinskog tipa skeletnih mišića je jedan izklase rijanodinskih receptora i proteina koji se prvenstveno nalazi u skeletnim mišićima. Taj protein koji je kod ljudi kodiran genom RYR1 sa hromosoma 19.[5][6]

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 5.038 aminokiselina, a molekulska težina 565.176 Da.[6]

1020304050
MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEP
TSNAQNVPPDLAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTL
LYGHAILLRHAHSRMYLSCLTTSRSMTDKLAFDVGLQEDATGEACWWTMH
PASKQRSEGEKVRVGDDIILVSVSSERYLHLSTASGELQVDASFMQTLWN
MNPICSRCEEGFVTGGHVLRLFHGHMDECLTISPADSDDQRRLVYYEGGA
VCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVV
VDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHV
ASGLWLTYAAPDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAA
RMIHSTNGLYNQFIKSLDSFSGKPRGSGPPAGTALPIEGVILSLQDLIIY
FEPPSEDLQHEEKQSKLRSLRNRQSLFQEEGMLSMVLNCIDRLNVYTTAA
HFAEFAGEEAAESWKEIVNLLYELLASLIRGNRSNCALFSTNLDWLVSKL
DRLEASSGILEVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLD
VLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTNLINYVTSIRPNIFVG
RAEGTTQYSKWYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPYPGAGEG
WGGNGVGDDLYSYGFDGLHLWTGHVARPVTSPGQHLLAPEDVISCCLDLS
VPSISFRINGCPVQGVFESFNLDGLFFPVVSFSAGVKVRFLLGGRHGEFK
FLPPPGYAPCHEAVLPRERLHLEPIKEYRREGPRGPHLVGPSRCLSHTDF
VPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNK
RLHPCLVDFHSLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLK
KTKLPKTYMMSNGYKPAPLDLSHVRLTPAQTTLVDRLAENGHNVWARDRV
GQGWSYSAVQDIPARRNPRLVPYRLLDEATKRSNRDSLCQAVRTLLGYGY
NIEPPDQEPSQVENQSRCDRVRIFRAEKSYTVQSGRWYFEFEAVTTGEMR
VGWARPELRPDVELGADELAYVFNGHRGQRWHLGSEPFGRPWQPGDVVGC
MIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGH
LNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLE
HPHYEVSRVDGTVDTPPCLRLTHRTWGSQNSLVEMLFLRLSLPVQFHQHF
RCTAGATPLAPPGLQPPAEDEARAAEPDPDYENLRRSAGGWSEAENGKEG
TAKEGAPGGTPQAGGEAQPARAENEKDATTEKNKKRGFLFKAKKVAMMTQ
PPATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFAGQEPSCVWAG
WVTPDYHQHDMSFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFV
SPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQVEPNTKLFPA
VFVLPTHQNVIQFELGKQKNIMPLSAAMFQSERKNPAPQCPPRLEMQMLM
PVSWSRMPNHFLQVETRRAGERLGWAVQCQEPLTMMALHIPEENRCMDIL
ELSERLDLQRFHSHTLRLYRAVCALGNNRVAHALCSHVDQAQLLHALEDA
HLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPETRAITLFPPG
RSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSP
AIPLEALRDKALRMLGEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLV
MGIFGDEDVKQILKMIEPEVFTEEEEEEDEEEEGEEEDEEEKEEDEEETA
QEKEDEEKEEEEAAEGEKEEGLEEGLLQMKLPESVKLQMCHLLEYFCDQE
LQHRVESLAAFAERYVDKLQANQRSRYGLLIKAFSMTAAETARRTREFRS
PPQEQINMLLQFKDGTDEEDCPLPEEIRQDLLDFHQDLLAHCGIQLDGEE
EEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSH
MVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVE
DTMSLLECLGQIRSLLIVQMGPQEENLMIQSIGNIMNNKVFYQHPNLMRA
LGMHETVMEVMVNVLGGGESKEIRFPKMVTSCCRFLCYFCRISRQNQRSM
FDHLSYLLENSGIGLGMQGSTPLDVAAASVIDNNELALALQEQDLEKVVS
YLAGCGLQSCPMLVAKGYPDIGWNPCGGERYLDFLRFAVFVNGESVEENA
NVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRD
RRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEA
LRIRAILRSLVPLEDLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKA
SMVLFLDRVYGIENQDFLLHVLDVGFLPDMRAAASLDTATFSTTEMALAL
NRYLCLAVLPLITKCAPLFAGTEHRAIMVDSMLHTVYRLSRGRSLTKAQR
DVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMPLKLLTNHYER
CWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAM
PCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEK
LDSFINKFAEYTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEK
DKEIYRWPIKESLKAMIAWEWTIEKAREGEEEKTEKKKTRKISQSAQTYD
PREGYNPQPPDLSAVTLSRELQAMAEQLAENYHNTWGRKKKQELEAKGGG
THPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYAVTRGLKDMELDSSS
IEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAK
ILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALV
RHRVSLFGTDAPAVVNCLHILARSLDARTVMKSGPEIVKAGLRSFFESAS
EDIEKMVENLRLGKVSQARTQVKGVGQNLTYTTVALLPVLTTLFQHIAQH
QFGDDVILDDVQVSCYRTLCSIYSLGTTKNTYVEKLRPALGECLARLAAA
MPVAFLEPQLNEYNACSVYTTKSPRERAILGLPNSVEEMCPDIPVLERLM
ADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPEAPPSALPAGA
PPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRAR
PELLQSHFIPTIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSV
LCRDLYALYPLLIRYVDNNRAQWLTEPNPSAEELFRMVGEIFIYWSKSHN
FKREEQNFVVQNEINNMSFLTADNKSKMAKAGDIQSGGSDQERTKKKRRG
DRYSVQTSLIVATLKKMLPIGLNMCAPTDQDLITLAKTRYALKDTDEEVR
EFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREEDADDPEKIVRRVQEVS
AVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNLPTHRAC
NMFLESYKAAWILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQ
LVLHFSRTALTEKSKLDEDYLYMAYADIMAKSCHLEEGGENGEAEEEVEV
SFEEKQMEKQRLLYQQARLHTRGAAEMVLQMISACKGETGAMVSSTLKLG
ISILNGGNAEVQQKMLDYLKDKKEVGFFQSIQALMQTCSVLDLNAFERQN
KAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQN
YLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGKDVIEEQGKRNF
SKAMSVAKQVFNSLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMMM
KLAQDSSQIELLKELLDLQKDMVVMLLSLLEGNVVNGMIARQMVDMLVES
SSNVEMILKFFDMFLKLKDIVGSEAFQDYVTDPRGLISKKDFQKAMDSQK
QFSGPEIQFLLSCSEADENEMINCEEFANRFQEPARDIGFNVAVLLTNLS
EHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETN
RAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQI
SEPEGEPETDEDEGAGAAEAGAEGAEEGAAGLEGTAATAAAGATARVVAA
AGRALRGLSYRSLRRRVRRLRRLTAREAATAVAALLWAAVTRAGAAGAGA
AAGALGLLWGSLFGGGLVEGAKKVTVTELLAGMPDPTSDEVHGEQPAGPG
GDADGEGASEGAGDAAEGAGDEEEAVHEAGPGGADGAVAVTDGGPFRPEG
AGGLGDMGDTTPAEPPTPEGSPILKRKLGVDGVEEELPPEPEPEPEPELE
PEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRV
KFLNYLSRNFYTLRFLALFLAFAINFILLFYKVSDSPPGEDDMEGSAAGD
VSGAGSGGSSGWGLGAGEEAEGDEDENMVYYFLEESTGYMEPALRCLSLL
HTLVAFLCIIGYNCLKVPLVIFKREKELARKLEFDGLYITEQPEDDDVKG
QWDRLVLNTPSFPSNYWDKFVKRKVLDKHGDIYGRERIAELLGMDLATLE
ITAHNERKPNPPPGLLTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMS
LLGHYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGLLAVVVY
LYTVVAFNFFRKFYNKSEDEDEPDMKCDDMMTCYLFHMYVGVRAGGGIGD
EIEDPAGDEYELYRVVFDITFFFFVIVILLAIIQGLIIDAFGELRDQQEQ
VKEDMETKCFICGIGSDYFDTTPHGFETHTLEEHNLANYMFFLMYLINKD
ETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLS

Funkcija

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RYR1 funkcioniše kao kalcijev kanal za oslobađanje u sarkoplazmatski retikulum, kao i kao veza između sarkoplazmatskog retikuluma i poprečne tubule.[7] RYR1 je povezan sa dihidropiridinskim receptorom (kalcijski kanali L-tipa) unutar sarkolema T-tubula, koji se otvara kao odgovor na depolarizaciju, i na taj način efektivno znači da se RYR1 kanal otvara kao odgovor na depolarizaciju ćelije .

RYR1 ima signalnu ulogu tokom embrionske miogeneze skeletnih mišića. Postoji korelacija između Ca2+ posredovane RYR1 signalizacije i ekspresije više molekula uključenih u ključne miogene signalne puteve.[8] Od toga, više od 10 različito eksprimiranih gena pripada porodici Wnt koji su neophodni za diferencijaciju. Ovo se poklapa sa zapažanjem da se bez prisutnog RYR1 mišićne ćelije pojavljuju u manjim grupama, nedovoljno su razvijene i nemaju organizaciju. Sastav tipa vlakana je također pogođen, s manje mišićnih vlakana tipa 1, kada su smanjene količine RYR1.[9] Ovi nalazi pokazuju da RYR1 ima nekontraktilnu ulogu tokom razvoja mišića.

RYR1 je mehanički vezan za neuromišićne spojeve za biološki proces izazvan otpuštanjem kalcija-kalcijem. Dok su signali izvedeni iz nerava potrebni za distribuciju klastera acetilholinskih receptora, postoje dokazi koji ukazuju na to da je aktivnost RYR1 važan posrednik u formiranju i oblikovanju ovih receptora tokom embrijskog razvoja..[10] Čini se da signali iz nerva i aktivnosti RYR1 uravnotežuju jedni druge. Kada se RYR1 eliminiše, klasteri acetilholinskih receptora pojavljuju se u abnormalno uskom obrascu, ali bez signala iz nerva, klasteri su raštrkani i široki. Iako je njihova direktna uloga još uvijek nepoznata, RYR1 je neophodan za pravilnu distribuciju klastera acetilholinskih receptora.

Klinički značaj

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Mutacije u genu RYR1 povezane su sa osjetljivošću na malignu hipertermiju , bolest centralnog jezgra, miopatiju minijezgra sa vanjskom oftalmoplegijom i samarićansku miopatiju, benignu kongenitalnu miopatiju.[11]Xdemonstrirani su alternativno prerađeni primarni transkripti koji kodiraju različite izoforme.[7] Dantrolen može biti jedini poznati lijek koji je efikasan u slučajevima maligne hipertermije.

Interakcije

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Pokazalo se da RYR1 interraguje sa:

Također pogledajte

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Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000196218 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030592 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH (July 1991). "Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia". Science. 253 (5018): 448–51. Bibcode:1991Sci...253..448F. doi:10.1126/science.1862346. PMID 1862346.
  6. ^ a b Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I (June 2006). "Central core disease is due to RYR1 mutations in more than 90% of patients". Brain. 129 (Pt 6): 1470–80. doi:10.1093/brain/awl077. PMID 16621918.
  7. ^ a b "Entrez Gene: RYR1 ryanodine receptor 1 (skeletal)".
  8. ^ Filipova D, Walter AM, Gaspar JA, Brunn A, Linde NF, Ardestani MA, Deckert M, Hescheler J, Pfitzer G, Sachinidis A, Papadopoulos S (April 2016). "Corrigendum: Gene profiling of embryonic skeletal muscle lacking type I ryanodine receptor Ca(2+) release channel". Scientific Reports. 6: 24450. Bibcode:2016NatSR...624450F. doi:10.1038/srep24450. PMC 4840354. PMID 27102063.
  9. ^ Willemse H, Theodoratos A, Smith PN, Dulhunty AF (February 2016). "Unexpected dependence of RyR1 splice variant expression in human lower limb muscles on fiber-type composition". Pflügers Archiv. 468 (2): 269–78. doi:10.1007/s00424-015-1738-9. PMID 26438192. S2CID 5894066.
  10. ^ Hanson MG, Niswander LA (December 2014). "An explant muscle model to examine the refinement of the synaptic landscape". Journal of Neuroscience Methods. 238: 95–104. doi:10.1016/j.jneumeth.2014.09.013. PMC 4252626. PMID 25251554.
  11. ^ Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J (October 2012). "Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation". Acta Neuropathologica. 124 (4): 575–81. doi:10.1007/s00401-012-1007-3. PMID 22752422. S2CID 9014320.
  12. ^ Fruen BR, Balog EM, Schafer J, Nitu FR, Thomas DD, Cornea RL (January 2005). "Direct detection of calmodulin tuning by ryanodine receptor channel targets using a Ca2+-sensitive acrylodan-labeled calmodulin". Biochemistry. 44 (1): 278–84. CiteSeerX 10.1.1.578.9139. doi:10.1021/bi048246u. PMID 15628869.
  13. ^ Cornea RL, Nitu F, Gruber S, Kohler K, Satzer M, Thomas DD, Fruen BR (April 2009). "FRET-based mapping of calmodulin bound to the RyR1 Ca2+ release channel". Proceedings of the National Academy of Sciences of the United States of America. 106 (15): 6128–33. Bibcode:2009PNAS..106.6128C. doi:10.1073/pnas.0813010106. PMC 2662960. PMID 19332786.
  14. ^ Avila G, Lee EH, Perez CF, Allen PD, Dirksen RT (June 2003). "FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes". The Journal of Biological Chemistry. 278 (25): 22600–8. doi:10.1074/jbc.M205866200. PMID 12704193.
  15. ^ Bultynck G, De Smet P, Rossi D, Callewaert G, Missiaen L, Sorrentino V, De Smedt H, Parys JB (March 2001). "Characterization and mapping of the 12 kDa FK506-binding protein (FKBP12)-binding site on different isoforms of the ryanodine receptor and of the inositol 1,4,5-trisphosphate receptor". The Biochemical Journal. 354 (Pt 2): 413–22. doi:10.1042/bj3540413. PMC 1221670. PMID 11171121.
  16. ^ Gaburjakova M, Gaburjakova J, Reiken S, Huang F, Marx SO, Rosemblit N, Marks AR (May 2001). "FKBP12 binding modulates ryanodine receptor channel gating". The Journal of Biological Chemistry. 276 (20): 16931–5. doi:10.1074/jbc.M100856200. PMID 11279144.
  17. ^ Hwang SY, Wei J, Westhoff JH, Duncan RS, Ozawa F, Volpe P, Inokuchi K, Koulen P (August 2003). "Differential functional interaction of two Vesl/Homer protein isoforms with ryanodine receptor type 1: a novel mechanism for control of intracellular calcium signaling". Cell Calcium. 34 (2): 177–84. doi:10.1016/S0143-4160(03)00082-4. PMID 12810060.
  18. ^ a b c Feng W, Tu J, Yang T, Vernon PS, Allen PD, Worley PF, Pessah IN (November 2002). "Homer regulates gain of ryanodine receptor type 1 channel complex". The Journal of Biological Chemistry. 277 (47): 44722–30. doi:10.1074/jbc.M207675200. PMID 12223488.
  19. ^ Lee JM, Rho SH, Shin DW, Cho C, Park WJ, Eom SH, Ma J, Kim DH (February 2004). "Negatively charged amino acids within the intraluminal loop of ryanodine receptor are involved in the interaction with triadin". The Journal of Biological Chemistry. 279 (8): 6994–7000. doi:10.1074/jbc.M312446200. PMID 14638677.
  20. ^ Caswell AH, Motoike HK, Fan H, Brandt NR (January 1999). "Location of ryanodine receptor binding site on skeletal muscle triadin". Biochemistry. 38 (1): 90–7. doi:10.1021/bi981306+. PMID 9890886.
  21. ^ Guo W, Campbell KP (April 1995). "Association of triadin with the ryanodine receptor and calsequestrin in the lumen of the sarcoplasmic reticulum". The Journal of Biological Chemistry. 270 (16): 9027–30. doi:10.1074/jbc.270.16.9027. PMID 7721813.
  22. ^ Groh S, Marty I, Ottolia M, Prestipino G, Chapel A, Villaz M, Ronjat M (April 1999). "Functional interaction of the cytoplasmic domain of triadin with the skeletal ryanodine receptor". The Journal of Biological Chemistry. 274 (18): 12278–83. doi:10.1074/jbc.274.18.12278. PMID 10212196.

Dopunska literatura

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  • Treves S, Anderson AA, Ducreux S, Divet A, Bleunven C, Grasso C, Paesante S, Zorzato F (October 2005). "Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders". Neuromuscular Disorders. 15 (9–10): 577–87. doi:10.1016/j.nmd.2005.06.008. PMID 16084090. S2CID 31372661.

Vanjski linkovi

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Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.