Cryab

Summary

Gene Symbol: Cryab
Description: crystallin, alpha B
Alias: Crya-2, Crya2, HspB5, P23, alpha-crystallin B chain, alpha(B)-crystallin, crystallin, alpha 2, heat shock protein CryAB, heat shock protein HspB5
Species: mouse
Products:     Cryab

Top Publications

  1. Mulligan M, Ponomarev I, Hitzemann R, Belknap J, Tabakoff B, Harris R, et al. Toward understanding the genetics of alcohol drinking through transcriptome meta-analysis. Proc Natl Acad Sci U S A. 2006;103:6368-73 pubmed
    ..genes for an alcohol preference quantitative trait locus on chromosome 9 were identified: Arhgef12, Carm1, Cryab, Cox5a, Dlat, Fxyd6, Limd1, Nicn1, Nmnat3, Pknox2, Rbp1, Sc5d, Scn4b, Tcf12, Vps11, and Zfp291 and four ESTs...
  2. Ousman S, Tomooka B, van Noort J, Wawrousek E, O Connor K, Hafler D, et al. Protective and therapeutic role for alphaB-crystallin in autoimmune demyelination. Nature. 2007;448:474-9 pubmed
    alphaB-crystallin (CRYAB) is the most abundant gene transcript present in early active multiple sclerosis lesions, whereas such transcripts are absent in normal brain tissue...
  3. Lin D, Barbash O, Kumar K, Weber J, Harper J, Klein Szanto A, et al. Phosphorylation-dependent ubiquitination of cyclin D1 by the SCF(FBX4-alphaB crystallin) complex. Mol Cell. 2006;24:355-66 pubmed
    ..We conclude that SCF(FBX4-alphaB crystallin) is an E3 ubiquitin ligase that promotes ubiquitin-dependent degradation of Thr286-phosphorylated cyclin D1. ..
  4. Swamynathan S, Piatigorsky J. Regulation of the mouse alphaB-crystallin and MKBP/HspB2 promoter activities by shared and gene specific intergenic elements: the importance of context dependency. Int J Dev Biol. 2007;51:689-700 pubmed
    ..The context-dependency of cis-elements provides multiple opportunities for evolutionary novelty by small sequence changes. ..
  5. Andley U, Song Z, Wawrousek E, Brady J, Bassnett S, Fleming T. Lens epithelial cells derived from alphaB-crystallin knockout mice demonstrate hyperproliferation and genomic instability. FASEB J. 2001;15:221-229 pubmed
    ..These observations suggest that the widely distributed molecular chaperone alphaB-crystallin may play an important nuclear role in maintaining genomic integrity. ..
  6. Kawauchi S, Takahashi S, Nakajima O, Ogino H, Morita M, Nishizawa M, et al. Regulation of lens fiber cell differentiation by transcription factor c-Maf. J Biol Chem. 1999;274:19254-60 pubmed
    ..The expression of crystallin genes was severely impaired in the c-maf-null mutant mouse lens. These results demonstrate that c-Maf is an indispensable regulator of lens differentiation during murine development. ..
  7. Sanbe A, Osinska H, Villa C, Gulick J, Klevitsky R, Glabe C, et al. Reversal of amyloid-induced heart disease in desmin-related cardiomyopathy. Proc Natl Acad Sci U S A. 2005;102:13592-7 pubmed
    ..The R120G mutation in alpha-B-crystallin (CryAB) causes DRM and is characterized by aggresomes containing CryAB(R120G) and amyloid oligomer...
  8. Machon O, Kreslova J, Ruzickova J, Vacik T, Klimova L, Fujimura N, et al. Lens morphogenesis is dependent on Pax6-mediated inhibition of the canonical Wnt/beta-catenin signaling in the lens surface ectoderm. Genesis. 2010;48:86-95 pubmed publisher
    ..Thus Pax6 is required for down-regulation of canonical Wnt signaling in the presumptive lens ectoderm...
  9. Ring B, Cordes S, Overbeek P, Barsh G. Regulation of mouse lens fiber cell development and differentiation by the Maf gene. Development. 2000;127:307-17 pubmed
    ..Our results indicate that Maf directly activates many if not all of the (beta)-crystallin genes, and suggest a model for coordinating cell cycle withdrawal with terminal differentiation. ..

More Information

Publications80

  1. Kase S, He S, Sonoda S, Kitamura M, Spee C, Wawrousek E, et al. alphaB-crystallin regulation of angiogenesis by modulation of VEGF. Blood. 2010;115:3398-406 pubmed publisher
    ..Our studies indicate an important role for alphaB-crystallin as a chaperone for VEGF-A in angiogenesis and its potential as a therapeutic target. ..
  2. Rothbard J, Kurnellas M, Brownell S, Adams C, Su L, Axtell R, et al. Therapeutic effects of systemic administration of chaperone ?B-crystallin associated with binding proinflammatory plasma proteins. J Biol Chem. 2012;287:9708-21 pubmed publisher
    The therapeutic benefit of the small heat shock protein ?B-crystallin (HspB5) in animal models of multiple sclerosis and ischemia is proposed to arise from its increased capacity to bind proinflammatory proteins at the elevated ..
  3. Sandilands A, Hutcheson A, Long H, Prescott A, Vrensen G, Löster J, et al. Altered aggregation properties of mutant gamma-crystallins cause inherited cataract. EMBO J. 2002;21:6005-14 pubmed
    ..The mutant gamma-crystallins initially disrupt nuclear function, but then this progresses to a full cataract phenotype. ..
  4. Swamynathan S, Piatigorsky J. Orientation-dependent influence of an intergenic enhancer on the promoter activity of the divergently transcribed mouse Shsp/alpha B-crystallin and Mkbp/HspB2 genes. J Biol Chem. 2002;277:49700-6 pubmed
  5. Kannan R, Ouyang B, Wawrousek E, Kaplowitz N, Andley U. Regulation of GSH in alphaA-expressing human lens epithelial cell lines and in alphaA knockout mouse lenses. Invest Ophthalmol Vis Sci. 2001;42:409-16 pubmed
    ..It is suggested that neonatal precataractous lenses (with normal GSH and decreased GCS) may maintain their GSH level by other compensatory mechanisms such as increased GSH transport. ..
  6. Sreekumar P, Spee C, Ryan S, Cole S, Kannan R, Hinton D. Mechanism of RPE cell death in ?-crystallin deficient mice: a novel and critical role for MRP1-mediated GSH efflux. PLoS ONE. 2012;7:e33420 pubmed publisher
    ..Our findings suggest that MRP1 and ? crystallin are potential therapeutic targets in pathological retinal degenerative disorders linked to oxidative stress. ..
  7. Chen Q, Liu J, Horak K, Zheng H, Kumarapeli A, Li J, et al. Intrasarcoplasmic amyloidosis impairs proteolytic function of proteasomes in cardiomyocytes by compromising substrate uptake. Circ Res. 2005;97:1018-26 pubmed
    ..by cardiac-restricted expression of a human desmin-related myopathy-linked missense mutation of alphaB-crystallin (CryAB(R120G))...
  8. Dou G, Sreekumar P, Spee C, He S, Ryan S, Kannan R, et al. Deficiency of ?B crystallin augments ER stress-induced apoptosis by enhancing mitochondrial dysfunction. Free Radic Biol Med. 2012;53:1111-22 pubmed publisher
    ..Thus, these data collectively demonstrate that ?B crystallin provides critical protection of mitochondrial function during ER stress-induced RPE apoptosis. ..
  9. Yaung J, Jin M, Barron E, Spee C, Wawrousek E, Kannan R, et al. alpha-Crystallin distribution in retinal pigment epithelium and effect of gene knockouts on sensitivity to oxidative stress. Mol Vis. 2007;13:566-77 pubmed
    ..Lack of alpha-crystallins renders RPE cells more susceptible to apoptosis from oxidative stress. Mitochondrial alpha-crystallins may play an important role in the protection from increased susceptibility of RPE in oxidative stress. ..
  10. Xi J, Bai F, Gross J, Townsend R, Menko A, Andley U. Mechanism of small heat shock protein function in vivo: a knock-in mouse model demonstrates that the R49C mutation in alpha A-crystallin enhances protein insolubility and cell death. J Biol Chem. 2008;283:5801-14 pubmed
    ..To our knowledge this is the first knock-in mouse model for a crystallin mutation causing hereditary human cataract and establishes that alphaA-R49C promotes protein insolubility and cell death in vivo. ..
  11. Sanbe A, Osinska H, Saffitz J, Glabe C, Kayed R, Maloyan A, et al. Desmin-related cardiomyopathy in transgenic mice: a cardiac amyloidosis. Proc Natl Acad Sci U S A. 2004;101:10132-6 pubmed
    An R120G missense mutation in the small heat shock protein alpha-B-crystallin (CryAB(R120G)) causes desmin-related cardiomyopathy (DRM)...
  12. Shaham O, Smith A, Robinson M, Taketo M, Lang R, Ashery Padan R. Pax6 is essential for lens fiber cell differentiation. Development. 2009;136:2567-78 pubmed publisher
    ..This study reveals that Pax6 is pivotal for initiation of the lens fiber differentiation program in the mammalian eye...
  13. Yoshimoto A, Saigou Y, Higashi Y, Kondoh H. Regulation of ocular lens development by Smad-interacting protein 1 involving Foxe3 activation. Development. 2005;132:4437-48 pubmed
    ..26 kb promoter, and are separate from lens-specific regulation. This is the first demonstration of the significance of Smad interaction in modulating Sip1 activity. ..
  14. Morozov V, Wawrousek E. Caspase-dependent secondary lens fiber cell disintegration in alphaA-/alphaB-crystallin double-knockout mice. Development. 2006;133:813-21 pubmed
  15. Kadono T, Zhang X, Srinivasan S, Ishida H, Barry W, Benjamin I. CRYAB and HSPB2 deficiency increases myocyte mitochondrial permeability transition and mitochondrial calcium uptake. J Mol Cell Cardiol. 2006;40:783-9 pubmed
    Double knockout (DKO) of the small heat shock proteins CRYAB and HSPB2 increases necrosis and apoptosis induced by ischemia/reperfusion (I/R) in vitro, but the mechanisms involved are unknown...
  16. Kim S, Cheong C, Sohn Y, Goo Y, Oh W, Park J, et al. Multiple developmental defects derived from impaired recruitment of ASC-2 to nuclear receptors in mice: implication for posterior lenticonus with cataract. Mol Cell Biol. 2002;22:8409-14 pubmed
    ..Our results provide a novel insight into the molecular and histopathological mechanism of posterior lenticonus with cataract and attest to the importance of ASC-2 as a pivotal transcriptional coactivator of nuclear receptors in vivo...
  17. Brady J, Garland D, Green D, Tamm E, Giblin F, Wawrousek E. AlphaB-crystallin in lens development and muscle integrity: a gene knockout approach. Invest Ophthalmol Vis Sci. 2001;42:2924-34 pubmed
    ..It may play a small role in maintaining transparency throughout life. alphaB and/or the closely related HSPB2 is required to maintain muscle cell integrity in some skeletal muscles. ..
  18. Dubin R, Wawrousek E, Piatigorsky J. Expression of the murine alpha B-crystallin gene is not restricted to the lens. Mol Cell Biol. 1989;9:1083-91 pubmed
  19. Andley U, Song Z, Wawrousek E, Bassnett S. The molecular chaperone alphaA-crystallin enhances lens epithelial cell growth and resistance to UVA stress. J Biol Chem. 1998;273:31252-61 pubmed
    ..These results indicate that alphaA has important cellular functions in the lens over and above its well characterized role in refraction. ..
  20. Brady J, Garland D, Duglas Tabor Y, Robison W, Groome A, Wawrousek E. Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin. Proc Natl Acad Sci U S A. 1997;94:884-9 pubmed
    ..These studies suggest that alpha A is essential for maintaining lens transparency, possibly by ensuring that alpha B or proteins closely associated with this small heat shock protein remain soluble. ..
  21. Morgenbesser S, Williams B, Jacks T, DePinho R. p53-dependent apoptosis produced by Rb-deficiency in the developing mouse lens. Nature. 1994;371:72-4 pubmed
    ..This developmental system provides a framework for understanding the consequences of the frequent mutation of both RB and p53 in human cancer. ..
  22. Robinson M, Overbeek P. Differential expression of alpha A- and alpha B-crystallin during murine ocular development. Invest Ophthalmol Vis Sci. 1996;37:2276-84 pubmed
    ..These results indicate that the alpha-crystallin genes are not identically regulated either within or outside the lens. ..
  23. Gopal Srivastava R, Cvekl A, Piatigorsky J. Pax-6 and alphaB-crystallin/small heat shock protein gene regulation in the murine lens. Interaction with the lens-specific regions, LSR1 and LSR2. J Biol Chem. 1996;271:23029-36 pubmed
    ..Our data strengthen the idea that Pax-6 has had a major role in recruiting genes for high expression in the lens. ..
  24. Wigle J, Chowdhury K, Gruss P, Oliver G. Prox1 function is crucial for mouse lens-fibre elongation. Nat Genet. 1999;21:318-22 pubmed
    ..Our data provide evidence that the progression of terminal fibre differentiation and elongation is dependent on Prox1 activity during lens development. ..
  25. Iwaki T, Kume Iwaki A, Liem R, Goldman J. Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain. Cell. 1989;57:71-8 pubmed
    ..Therefore, alpha B-crystallin is not lens-specific and it can accumulate in large amounts in astrocytes in pathological conditions. ..
  26. Dieterich L, Schiller P, Huang H, Wawrousek E, Loskog A, Wanders A, et al. ?B-Crystallin regulates expansion of CD11b?Gr-1? immature myeloid cells during tumor progression. FASEB J. 2013;27:151-62 pubmed publisher
    ..Our study suggests a key role of ?B-crystallin in limiting expansion of CD11b(+) Gr-1(+) IMCs in diverse pathological conditions. ..
  27. Maloyan A, Sanbe A, Osinska H, Westfall M, Robinson D, Imahashi K, et al. Mitochondrial dysfunction and apoptosis underlie the pathogenic process in alpha-B-crystallin desmin-related cardiomyopathy. Circulation. 2005;112:3451-61 pubmed
    ..An R120G missense mutation in the small heat shock protein alpha-B-crystallin (CryAB) causes desmin-related cardiomyopathy...
  28. Gopal Srivastava R, Piatigorsky J. The murine alpha B-crystallin/small heat shock protein enhancer: identification of alpha BE-1, alpha BE-2, alpha BE-3, and MRF control elements. Mol Cell Biol. 1993;13:7144-52 pubmed
  29. Xie Q, Cvekl A. The orchestration of mammalian tissue morphogenesis through a series of coherent feed-forward loops. J Biol Chem. 2011;286:43259-71 pubmed publisher
  30. Dimberg A, Rylova S, Dieterich L, Olsson A, Schiller P, Wikner C, et al. alphaB-crystallin promotes tumor angiogenesis by increasing vascular survival during tube morphogenesis. Blood. 2008;111:2015-23 pubmed
    ..Hereby we identify the small heat shock protein family as a novel class of angiogenic modulators. ..
  31. Yaung J, Kannan R, Wawrousek E, Spee C, Sreekumar P, Hinton D. Exacerbation of retinal degeneration in the absence of alpha crystallins in an in vivo model of chemically induced hypoxia. Exp Eye Res. 2008;86:355-65 pubmed publisher
    ..We conclude that lack of alpha-crystallins accentuates retinal degeneration in chemically induced hypoxia in vivo. ..
  32. Launay N, Goudeau B, Kato K, Vicart P, Lilienbaum A. Cell signaling pathways to alphaB-crystallin following stresses of the cytoskeleton. Exp Cell Res. 2006;312:3570-84 pubmed
    ..Thus, disturbance of cytoskeleton leads by converging signaling pathways to the phosphorylation of alphaB-crystallin, which probably acts as a protective effector of the cytoskeleton. ..
  33. Barbash O, Egan E, Pontano L, Kosak J, Diehl J. Lysine 269 is essential for cyclin D1 ubiquitylation by the SCF(Fbx4/alphaB-crystallin) ligase and subsequent proteasome-dependent degradation. Oncogene. 2009;28:4317-25 pubmed publisher
  34. Klemenz R, Fröhli E, Aoyama A, Hoffmann S, Simpson R, Moritz R, et al. Alpha B crystallin accumulation is a specific response to Ha-ras and v-mos oncogene expression in mouse NIH 3T3 fibroblasts. Mol Cell Biol. 1991;11:803-12 pubmed
    ..expression of the v-mos and Ha-ras(EJ) oncogenes in NIH 3T3 cells leads to the accumulation of a 23-kDa protein (p23) (R. Klemenz, S. Hoffmann, R. Jaggi, and A.-K. Werenskiold, Oncogene 4:799-803, 1989)...
  35. Takeuchi T, Kudo T, Ogata K, Hamada M, Nakamura M, Kito K, et al. Neither MafA/L-Maf nor MafB is essential for lens development in mice. Genes Cells. 2009;14:941-7 pubmed publisher
    ..These results indicate that c-Maf alone is essential for lens development, and that MafA/L-Maf and MafB are dispensable in mice. ..
  36. Yamashita A, Taniwaki T, Kaikoi Y, Yamazaki T. Protective role of the endoplasmic reticulum protein mitsugumin23 against ultraviolet C-induced cell death. FEBS Lett. 2013;587:1299-303 pubmed publisher
    ..Conversely, ?BC lowered UVC sensitivity when expressed as an ER-anchored form. Taken together, the results suggest that MG23 plays a protective role against UVC by accumulating ?BC in the close vicinity of the ER. ..
  37. Dubin R, Gopal Srivastava R, Wawrousek E, Piatigorsky J. Expression of the murine alpha B-crystallin gene in lens and skeletal muscle: identification of a muscle-preferred enhancer. Mol Cell Biol. 1991;11:4340-9 pubmed
    ..Gel shift and methylation interference studies demonstrated that nuclear proteins from C2C12 myoblasts and myotubes specifically bind to the enhancer. ..
  38. Qiu J, Yan Z, Tao K, Li Y, Li Y, Li J, et al. Sinomenine activates astrocytic dopamine D2 receptors and alleviates neuroinflammatory injury via the CRYAB/STAT3 pathway after ischemic stroke in mice. J Neuroinflammation. 2016;13:263 pubmed
    ..inhibited astrocytic activation and STAT3 phosphorylation as well as increased DRD2 and αB-crystallin (CRYAB) expression after MCAO...
  39. Diguet N, Mallat Y, Ladouce R, Clodic G, Prola A, Tritsch E, et al. Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy. J Biol Chem. 2011;286:35007-19 pubmed publisher
    ..Our results suggest that AGE may play an important role in DCM because they alter the organization of desmin filaments that normally support stress response and mitochondrial functions in cardiomyocytes. ..
  40. Karch C, Borchelt D. An examination of alpha B-crystallin as a modifier of SOD1 aggregate pathology and toxicity in models of familial amyotrophic lateral sclerosis. J Neurochem. 2010;113:1092-100 pubmed publisher
    ..These outcomes have implications regarding the role of chaperones in modulating the tissue specific accumulations of misfolded SOD1. ..
  41. Cain S, Martinez G, Kokkinos M, Turner K, Richardson R, Abud H, et al. Differential requirement for beta-catenin in epithelial and fiber cells during lens development. Dev Biol. 2008;321:420-33 pubmed publisher
    ..These data indicate that beta-catenin plays distinct functions during lens fiber differentiation and is involved in both Wnt signaling and adhesion-related mechanisms that regulate lens epithelium and early fiber differentiation. ..
  42. Frederikse P, Dubin R, Haynes J, Piatigorsky J. Structure and alternate tissue-preferred transcription initiation of the mouse alpha B-crystallin/small heat shock protein gene. Nucleic Acids Res. 1994;22:5686-94 pubmed
    ..Thus, regulation of alpha B-crystallin/small heat shock protein expression involves the utilization of tissue-preferred transcription initiation sites. ..
  43. Fromm L, Overbeek P. Regulation of cyclin and cyclin-dependent kinase gene expression during lens differentiation requires the retinoblastoma protein. Oncogene. 1996;12:69-75 pubmed
    ..These results indicate that the regulated expression of multiple cell cycle regulatory genes during lens fiber cell differentiation requires the presence of pRb. ..
  44. Koh T, Escobedo J. Cytoskeletal disruption and small heat shock protein translocation immediately after lengthening contractions. Am J Physiol Cell Physiol. 2004;286:C713-22 pubmed
  45. Tian X, Wang Q, Li D, Wang S, Yang Z, Guo B, et al. Differential expression and regulation of Cryab in mouse uterus during preimplantation period. Reproduction. 2013;145:577-85 pubmed publisher
    The aim of this study was to examine the expression and regulation of the crystallin, alpha B (Cryab) gene in mouse uterus during the peri-implantation period by in situ hybridization and real-time PCR...
  46. Fujimoto M, Izu H, Seki K, Fukuda K, Nishida T, Yamada S, et al. HSF4 is required for normal cell growth and differentiation during mouse lens development. EMBO J. 2004;23:4297-306 pubmed
  47. Liu C, Gilmont R, Benndorf R, Welsh M. Identification and characterization of a novel protein from Sertoli cells, PASS1, that associates with mammalian small stress protein hsp27. J Biol Chem. 2000;275:18724-31 pubmed
    ..Ectopic expression of PASS1 in two cultured cell lines was observed to inhibit the ability of hsp27 to protect cells against heat shock, indicating that PASS1 does interact with hsp27 in the live cell. ..
  48. Ojha J, Karmegam R, Masilamoni J, Terry A, Cashikar A. Behavioral defects in chaperone-deficient Alzheimer's disease model mice. PLoS ONE. 2011;6:e16550 pubmed publisher
    ..To test this, we crossed ?B-crystallin/HspB2 deficient (CRYAB?/?HSPB2?/?) mice with AD model transgenic mice expressing mutant human amyloid precursor protein...
  49. Morrison L, Whittaker R, Klepper R, Wawrousek E, Glembotski C. Roles for alphaB-crystallin and HSPB2 in protecting the myocardium from ischemia-reperfusion-induced damage in a KO mouse model. Am J Physiol Heart Circ Physiol. 2004;286:H847-55 pubmed
    ..Thus, whereas neither alphaBC nor HSPB2 is essential for myocardial development and function under nonstressful conditions, one or both are required for maximal functional recovery and protection from I/R-induced necrosis and apoptosis. ..
  50. Maloyan A, Robbins J. Autophagy in desmin-related cardiomyopathy: thoughts at the halfway point. Autophagy. 2010;6:665-6 pubmed
    ..The common pathological pattern in DRM is accumulation of misfolded proteins, however, clinical manifestations can differ significantly. ..
  51. Liu S, Piatigorsky J. Regulation of mouse small heat shock protein ?b-crystallin gene by aryl hydrocarbon receptor. PLoS ONE. 2011;6:e17904 pubmed publisher
  52. Arac A, Brownell S, Rothbard J, Chen C, Ko R, Pereira M, et al. Systemic augmentation of alphaB-crystallin provides therapeutic benefit twelve hours post-stroke onset via immune modulation. Proc Natl Acad Sci U S A. 2011;108:13287-92 pubmed publisher
    ..a unique target for effective treatment of stroke, even 12 h after onset, by the administration of ?B-crystallin (Cryab), an endogenous immunomodulatory neuroprotectant...
  53. Pinz I, Robbins J, Rajasekaran N, Benjamin I, Ingwall J. Unmasking different mechanical and energetic roles for the small heat shock proteins CryAB and HSPB2 using genetically modified mouse hearts. FASEB J. 2008;22:84-92 pubmed
    b>CryAB and HSPB2 are small heat shock proteins constitutively expressed in the heart. CryAB protects cytoskeletal organization and intermediate filament assembly; the functions of HSPB2 are unknown...
  54. Quax Jeuken Y, Quax W, van Rens G, Khan P, Bloemendal H. Complete structure of the alpha B-crystallin gene: conservation of the exon-intron distribution in the two nonlinked alpha-crystallin genes. Proc Natl Acad Sci U S A. 1985;82:5819-23 pubmed
    ..It is shown that the single-copy alpha A- and alpha B-crystallin genes are located on different chromosomes...
  55. Sanbe A, Marunouchi T, Yamauchi J, Tanonaka K, Nishigori H, Tanoue A. Cardioprotective effect of nicorandil, a mitochondrial ATP-sensitive potassium channel opener, prolongs survival in HSPB5 R120G transgenic mice. PLoS ONE. 2011;6:e18922 pubmed publisher
    Transgenic (TG) mice with overexpression of an arg120gly (R120G) missense mutation in HSPB5 display desmin-related cardiomyopathy, which is characterized by formation of aggresomes...
  56. Mao M, Kiss M, Ou Y, Gould D. Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse. Dis Model Mech. 2017;10:475-485 pubmed publisher
    ..5. Our results show that the lens and possibly vasculature play important roles in Col4a1-related ASD and that the pathogenic events occur at mid-embryogenesis in mice, during early stages of ocular development. ..
  57. Johnson E, Zhang L, Adams M, Phillips A, Freitas M, Froehner S, et al. Proteomic analysis reveals new cardiac-specific dystrophin-associated proteins. PLoS ONE. 2012;7:e43515 pubmed publisher
    ..In addition, our findings support the existence of cardiac-specific functions of dystrophin and may guide studies into early triggers of cardiac disease in Duchenne and Becker muscular dystrophies. ..
  58. Gopal Srivastava R, Piatigorsky J. Identification of a lens-specific regulatory region (LSR) of the murine alpha B-crystallin gene. Nucleic Acids Res. 1994;22:1281-6 pubmed
  59. Scheier B, Foletti A, Stark G, Aoyama A, Dobbeling U, Rusconi S, et al. Glucocorticoids regulate the expression of the stressprotein alpha B-crystallin. Mol Cell Endocrinol. 1996;123:187-98 pubmed
    ..A deletion from -465 to -389 abolish hormone-mediated gene induction. No sequence element closely resembling a classical GRE is present within that hormone-responsive region. ..
  60. Liu S, Li J, Tao Y, Xiao X. Small heat shock protein alphaB-crystallin binds to p53 to sequester its translocation to mitochondria during hydrogen peroxide-induced apoptosis. Biochem Biophys Res Commun. 2007;354:109-14 pubmed
    ..Hence, this study provides a hint that alphaB-crystallin affects on p53 mitochondrial translocation during oxidative stress-induced apoptosis. ..
  61. Doerwald L, Onnekink C, van Genesen S, de Jong W, Lubsen N. Translational thermotolerance provided by small heat shock proteins is limited to cap-dependent initiation and inhibited by 2-aminopurine. J Biol Chem. 2003;278:49743-50 pubmed
    ..Most likely the protective effect of alphaB-crystallin requires synthesis of the endogenous heat shock proteins. Translational thermotolerance would then be a co-operative effect of different heat shock proteins. ..
  62. Charukamnoetkanok P, Brady J, Wawrousek E, Egwuagu C, Zigler J, Vistica B, et al. Immunotolerance toward native alphaA-crystallin in knockout mice deficient in the functional protein. Immunol Lett. 2003;89:259-65 pubmed
    ..These data suggest that nonfunctional proteins may induce immunotolerance and protect recipients of gene therapy from immunity against the native proteins. ..
  63. Bai F, Xi J, Higashikubo R, Andley U. Cell kinetic status of mouse lens epithelial cells lacking alphaA- and alphaB-crystallin. Mol Cell Biochem. 2004;265:115-22 pubmed
    ..These data can be interpreted to indicate that mouse lens epithelial cell progression through the cell cycle is significantly affected by expression of alphaA and alphaB-crystallin. ..
  64. Min J, Zhang Y, Moskophidis D, Mivechi N. Unique contribution of heat shock transcription factor 4 in ocular lens development and fiber cell differentiation. Genesis. 2004;40:205-17 pubmed
    ..Thus, HSF4 fulfills a central role in controlling spatial and temporal expression of genes critical for correct development and function of the lens. ..
  65. Gopal Srivastava R, Haynes J, Piatigorsky J. Regulation of the murine alpha B-crystallin/small heat shock protein gene in cardiac muscle. Mol Cell Biol. 1995;15:7081-90 pubmed
    ..We conclude that the activity of the alpha B-crystallin enhancer in the heart utilizes a reverse CArG box and an E-box-dependent pathway. ..
  66. Shao W, Zhang S, Tang M, Zhang X, Zhou Z, Yin Y, et al. Suppression of neuroinflammation by astrocytic dopamine D2 receptors via ?B-crystallin. Nature. 2013;494:90-4 pubmed publisher
    ..Here we show that the astrocytic dopamine D2 receptor (DRD2) modulates innate immunity through ?B-crystallin (CRYAB), which is known to suppress neuroinflammation...
  67. Upadhya D, Ogata M, Reneker L. MAPK1 is required for establishing the pattern of cell proliferation and for cell survival during lens development. Development. 2013;140:1573-82 pubmed publisher
  68. Saint Geniez M, Kurihara T, D Amore P. Role of cell and matrix-bound VEGF isoforms in lens development. Invest Ophthalmol Vis Sci. 2009;50:311-21 pubmed publisher
    ..Abnormalities in ocular development in VEGF120/120 mice suggest a role for VEGF not only in the formation of ocular vascular beds but also in the differentiation of the lens itself. ..
  69. Hayashida N. Non-Hsp genes are essential for HSF1-mediated maintenance of whole body homeostasis. Exp Anim. 2015;64:397-406 pubmed publisher
    ..Of these genes, Nfatc2, Pdzk3, Cryab, Csrp2, and Prame were detected in most tissues, but the other genes were not...
  70. Peferoen L, Breur M, van de Berg S, Peferoen Baert R, Boddeke E, van der Valk P, et al. Ageing and recurrent episodes of neuroinflammation promote progressive experimental autoimmune encephalomyelitis in Biozzi ABH mice. Immunology. 2016;149:146-56 pubmed publisher
    ..This indicates that recurrent episodes of inflammation in the CNS, as well as age, contribute to progressive neurological disease. ..
  71. Andley U, Tycksen E, McGlasson Naumann B, Hamilton P. Probing the changes in gene expression due to ?-crystallin mutations in mouse models of hereditary human cataract. PLoS ONE. 2018;13:e0190817 pubmed publisher
    ..To investigate the mechanism by which the ?-crystallin mutations Cryaa-R49C and Cryab-R120G lead to cataract formation, we determined whether these mutations cause an altered expression of specific ..