Page 130 - 南京医科大学自然版
P. 130
第45卷第1期
·124 · 南 京 医 科 大 学 学 报 2025年1月
Left ventricular systolic dysfunction in patients diagnosed [20]TOLKATCHEV D,SMITH G E,KOSTYUKOVA A S.
with hypertrophic cardiomyopathy during childhood:in⁃ Role of intrinsic disorder in muscle sarcomeres[J]. Prog
sights from the SHaRe registry[J]. Circulation,2023,148 Mol Biol Transl Sci,2019,166:311-340
(5):394-404 [21]RISI C,BELKNAP B,FORGACS⁃LONART E,et al. N⁃
[8] MARSTON N A,HAN L,OLIVOTTO I,et al. Clinical terminal domains of cardiac myosin binding protein C co⁃
characteristics and outcomes in childhood⁃onset hypertro⁃ operatively activate the thin filament[J]. Structure,2018,
phic cardiomyopathy[J]. Eur Heart J,2021,42(20): 26(12):1604-1611
1988-1996 [22]BELKNAP B,HARRIS S P,WHITE H D. Modulation of
[9] CHAN W X,YANG S W,WANG J,et al. Clinical charac⁃ thin filament activation of myosin ATP hydrolysis by N⁃
teristics and survival of children with hypertrophic cardio⁃ terminal domains of cardiac myosin binding protein⁃C[J].
myopathy in China:a multicentre retrospective cohort Biochemistry,2014,53(42):6717-6724
study[J]. EClinical Medicine,2022,49:101466 [23]WALCOTT S,DOCKEN S,HARRIS S P. Effects of cardiac
[10]TUDURACHI B S,ZAVOI A,LEONTE A,et al. An up⁃ myosin binding protein⁃C on actin motility are explained
date on MYBPC3 gene mutation in hypertrophic cardiomy⁃ with a drag⁃activation⁃competition model[J]. Biophys J,
opathy[J]. Int J Mol Sci,2023,24(13):10510 2015,108(1):10-13
[11]SUAY⁃CORREDERA C,ALEGRE⁃CEBOLLADA J. The [24]HERRERA⁃RODRÍGUEZ D L,TOTOMOCH⁃SERRA A,
mechanics of the heart:zooming in on hypertrophic cardio⁃ ROSAS⁃MADRIGAL S,et al. Genes frequently associated
myopathy and cMyBP⁃C[J]. FEBS Lett,2022,596(6): with sudden death in primary hypertrophic cardiomyopa⁃
703-746 thy[J]. Arch Cardiol Mex,2020,90(1):58-68
[12]LORENZINI M,NORRISH G,FIELD E,et al. Penetrance [25]RIBEIRO M,JAGER J,FURTADO M,et al. Generation
of hypertrophic cardiomyopathy in sarcomere protein mu⁃ of induced pluripotent stem cells from an individual with
tation carriers[J]. J Am Coll Cardiol,2020,76(5):550- early onset and severe hypertrophic cardiomyopathy
559 linked to MYBPC3:c. 772G>A mutation[J]. Hum Cell,
[13]YASUDA M,KOSHIDA S,SATO N,et al. Complete pri⁃ 2024,37(4):1205-1214
mary structure of chicken cardiac C ⁃ protein(MyBP ⁃ C) [26]CARRIER L. Targeting the population for gene therapy
and its expression in developing striated muscles[J]. J with MYBPC3[J]. J Mol Cell Cardiol,2021,150:101-
Mol Cell Cardiol,1995,27(10):2275-2286 108
[14]HELING L W H J,GEEVES M A,KAD N M. MyBP⁃C: [27]SUAY ⁃ CORREDERA C,PRICOLO M R,HERRERO ⁃
one protein to govern them all[J]. J Muscle Res Cell Mo⁃ GALÁN E,et al. Protein haploinsufficiency drivers identify
til,2020,41(1):91-101 MYBPC3 variants that cause hypertrophic cardiomyopa⁃
[15]DOH C Y,SCHMIDT A V,CHINTHALAPUDI K,et al. thy[J]. J Biol Chem,2021,297(1):100854
Bringing into focus the central domains C3⁃C6 of myosin [28]TRIVEDI D V,ADHIKARI A S,SARKAR S S,et al.
binding protein C[J]. Front Physiol,2024,15:1370539 Hypertrophic cardiomyopathy and the myosin mesa:
[16]WOODHEAD J L,ZHAO F Q,CRAIG R,et al. Atomic viewing an old disease in a new light[J]. Biophys Rev,
model of a myosin filament in the relaxed state[J]. Na⁃ 2018,10(1):27-48
ture,2005,436(7054):1195-1199 [29]MÉNDEZ I,FERNÁNDEZ A I,ESPINOSA M Á,et al.
[17]BAREFIELD D,SADAYAPPAN S. Phosphorylation and Founder mutation in myosin ⁃ binding protein C with an
function of cardiac myosin binding protein ⁃ C in health early onset and a high penetrance in males[J]. Open
and disease[J]. J Mol Cell Cardiol,2010,48(5):866- Heart,2021,8(2):e001789
875 [30]GROVER S,LLOYD R,PERRY R,et al. Assessment of
[18]KANASSATEGA R S,BUNCH T A,LEPAK V C,et al. myocardial oxygenation,strain,and diastology in MYBPC3⁃
Human cardiac myosin⁃binding protein C phosphorylation related hypertrophic cardiomyopathy:a cardiovascular
⁃ and mutation⁃dependent structural dynamics monitored magnetic resonance and echocardiography study[J]. Eur
by time ⁃ resolved FRET[J]. J Mol Cell Cardiol,2022, Heart J Cardiovasc Imaging,2019,20(8):932-938
166:116-126 [31]WESSELS M W,HERKERT J C,FROHN⁃MULDER I M,
[19] GOVADA L,CHAYEN N E. Crystallisation and charac⁃ et al. Compound heterozygous or homozygous truncating
terisation of muscle proteins:a mini⁃review[J]. J Muscle MYBPC3 mutations cause lethal cardiomyopathy with fea⁃
Res Cell Motil,2023,44(3):209-215 tures of noncompaction and septal defects[J]. Eur J Hum

