Clinical significance
Chromosome 4 pericentric inversion has been observed in 10 patients, with associated cardiac defects linked to terminal 4q35.1 deletions, which may affect PDLIM3.[18]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000154553 - Ensembl, May 2017
- ↑ "Human PubMed Reference:".
- ↑ Bouju S, Piétu G, Le Cunff M, Cros N, Malzac P, Pellissier JF, Pons F, Léger JJ, Auffray C, Dechesne CA (Jan 1999). "Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes". Neuromuscular Disorders. 9 (1): 3–10. doi:10.1016/S0960-8966(98)00087-X. PMID 10063829.
- ↑ Piétu G, Alibert O, Guichard V, Lamy B, Bois F, Leroy E, Mariage-Sampson R, Houlgatte R, Soularue P, Auffray C (Jun 1996). "Novel gene transcripts preferentially expressed in human muscles revealed by quantitative hybridization of a high density cDNA array". Genome Research. 6 (6): 492–503. doi:10.1101/gr.6.6.492. PMID 8828038.
- ↑ "Entrez Gene: PDLIM3 PDZ and LIM domain 3".
- ↑ "Protein sequence for human PDZ and LIM domain protein 3 (Uniprot: Q53GG5-2)". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Retrieved 22 June 2015.
- ↑ "Protein sequence for human PDZ and LIM domain protein 3 (Uniprot: Q53GG5)". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Retrieved 22 June 2015.
- 1 2 Pomiès P, Macalma T, Beckerle MC (Oct 1999). "Purification and characterization of an alpha-actinin-binding PDZ-LIM protein that is up-regulated during muscle differentiation". The Journal of Biological Chemistry. 274 (41): 29242–50. doi:10.1074/jbc.274.41.29242. PMID 10506181.
- ↑ Te Velthuis AJ, Isogai T, Gerrits L, Bagowski CP (7 February 2007). "Insights into the molecular evolution of the PDZ/LIM family and identification of a novel conserved protein motif". PLOS ONE. 2 (2): e189. doi:10.1371/journal.pone.0000189. PMC 1781342. PMID 17285143.
- 1 2 3 Xia H, Winokur ST, Kuo WL, Altherr MR, Bredt DS (Oct 1997). "Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs". The Journal of Cell Biology. 139 (2): 507–15. doi:10.1083/jcb.139.2.507. PMC 2139795. PMID 9334352.
- ↑ Ponting CP, Phillips C (Mar 1995). "DHR domains in syntrophins, neuronal NO synthases and other intracellular proteins". Trends in Biochemical Sciences. 20 (3): 102–3. doi:10.1016/s0968-0004(00)88973-2. PMID 7535955.
- ↑ Dixon DM, Choi J, El-Ghazali A, Park SY, Roos KP, Jordan MC, Fishbein MC, Comai L, Reddy S (12 March 2015). "Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms". Scientific Reports. 5: 9042. doi:10.1038/srep09042. PMC 4356957. PMID 25761764.
- ↑ Henderson JR, Pomiès P, Auffray C, Beckerle MC (Mar 2003). "ALP and MLP distribution during myofibrillogenesis in cultured cardiomyocytes". Cell Motility and the Cytoskeleton. 54 (3): 254–65. doi:10.1002/cm.10102. PMID 12589684.
- 1 2 Pashmforoush M, Pomiès P, Peterson KL, Kubalak S, Ross J, Hefti A, Aebi U, Beckerle MC, Chien KR (May 2001). "Adult mice deficient in actinin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy". Nature Medicine. 7 (5): 591–7. doi:10.1038/87920. PMID 11329061.
- ↑ Lorenzen-Schmidt I, McCulloch AD, Omens JH (Jul 2005). "Deficiency of actinin-associated LIM protein alters regional right ventricular function and hypertrophic remodeling". Annals of Biomedical Engineering. 33 (7): 888–96. doi:10.1007/s10439-005-3604-y. PMC 4482468. PMID 16060528.
- ↑ Lodder EM, Scicluna BP, Beekman L, Arends D, Moerland PD, Tanck MW, Adriaens ME, Bezzina CR (Dec 2014). "Integrative genomic approach identifies multiple genes involved in cardiac collagen deposition". Circulation: Cardiovascular Genetics. 7 (6): 790–8. doi:10.1161/CIRCGENETICS.114.000537. PMID 25217174.
- ↑ Lee SJ, Ways JA, Barbato JC, Essig D, Pettee K, DeRaedt SJ, Yang S, Weaver DA, Koch LG, Cicila GT (Sep 2005). "Gene expression profiling of the left ventricles in a rat model of intrinsic aerobic running capacity". Physiological Genomics. 23 (1): 62–71. doi:10.1152/physiolgenomics.00251.2004. PMID 16033863.
- ↑ Maurin ML, Labrune P, Brisset S, Le Lorc'h M, Pineau D, Castel C, Romana S, Tachdjian G (Feb 2009). "Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion". American Journal of Medical Genetics Part A. 149A (2): 226–31. doi:10.1002/ajmg.a.32603. PMID 19161154.
Further reading
- Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Xia H, Winokur ST, Kuo WL, Altherr MR, Bredt DS (Oct 1997). "Actinin-associated LIM protein: identification of a domain interaction between PDZ and spectrin-like repeat motifs". The Journal of Cell Biology. 139 (2): 507–15. doi:10.1083/jcb.139.2.507. PMC 2139795. PMID 9334352.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Klaavuniemi T, Kelloniemi A, Ylänne J (Jun 2004). "The ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line". The Journal of Biological Chemistry. 279 (25): 26402–10. doi:10.1074/jbc.M401871200. PMID 15084604.
´* Brown AK, O'Connor PJ, Roberts TE, Wakefield RJ, Karim Z, Emery P (May 2006). "Ultrasonography for rheumatologists: the development of specific competency based educational outcomes". Annals of the Rheumatic Diseases. 65 (5): 629–36. doi:10.1136/ard.2005.039974. PMC 1798129. PMID 16192291.
- Arola AM, Sanchez X, Murphy RT, Hasle E, Li H, Elliott PM, McKenna WJ, Towbin JA, Bowles NE (Apr 2007). "Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy". Molecular Genetics and Metabolism. 90 (4): 435–40. doi:10.1016/j.ymgme.2006.12.008. PMID 17254821.
PDB gallery |
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1v5l: Solution structure of PDZ domain of mouse Alpha-actinin-2 associated LIM protein |