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Joubert Syndrome.
Parisi M, Glass I. Parisi M, et al. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301500 Free Books & Documents. Review.
Proteomic alterations underlie an association with teratozoospermia in obese mice sperm.
Peng Y, Zhao W, Qu F, Jing J, Hu Y, Liu Y, Ding Z. Peng Y, et al. Reprod Biol Endocrinol. 2019 Oct 24;17(1):82. doi: 10.1186/s12958-019-0530-7. Reprod Biol Endocrinol. 2019. PMID: 31651332 Free PMC article.
Differential proteomic analysis identified reduced cytoskeletal proteins, centrosome and spindle pole associated protein 1 (CSPP1) and Centrin 1 (CETN1), in sperm from obese mice. ...Obesity is associated with …
Differential proteomic analysis identified reduced cytoskeletal proteins, centrosome and spindle pole associa …
Mutations in CSPP1 lead to classical Joubert syndrome.
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG. Akizu N, et al. Am J Hum Genet. 2014 Jan 2;94(1):80-6. doi: 10.1016/j.ajhg.2013.11.015. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360807 Free PMC article.
Causative mutations lead to primary cilia dysfunction, which often results in variable involvement of other organs such as the liver, retina, and kidney. We identified predicted null mutations in CSPP1 in six individuals affected by classical JSRDs. CSPP1 encodes a …
Causative mutations lead to primary cilia dysfunction, which often results in variable involvement of other organs such as the liver, retina …
Fixation methods can differentially affect ciliary protein immunolabeling.
Hua K, Ferland RJ. Hua K, et al. Cilia. 2017 Mar 24;6:5. doi: 10.1186/s13630-017-0045-9. eCollection 2017. Cilia. 2017. PMID: 28352462 Free PMC article.
Each cell type and fixation method combination was probed with the following ciliary markers: acetylated alpha-tubulin, detyrosinated tubulin, polyglutamylated tubulin, beta-tubulin, adenylyl cyclase 3 (AC3), ADP-ribosylation factor-like protein 13b (Arl13b), centrosome …
Each cell type and fixation method combination was probed with the following ciliary markers: acetylated alpha-tubulin, detyrosinated tubuli …
Identification of circRNA circ-CSPP1 as a potent driver of colorectal cancer by directly targeting the miR-431/LASP1 axis.
Li M, Zhuang J, Kang D, Chen Y, Song W. Li M, et al. Open Life Sci. 2021 May 29;16(1):523-536. doi: 10.1515/biol-2021-0053. eCollection 2021. Open Life Sci. 2021. PMID: 34124372 Free PMC article.
The purpose of the current work is to investigate the precise parts of circRNA centrosome and spindle pole-associated protein 1 (circ-CSPP1) in the progression of CRC. ...Moreover, LIM and SH3 protein 1 (LASP1) was a …
The purpose of the current work is to investigate the precise parts of circRNA centrosome and spindle pole-associate …
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ. Tuz K, et al. Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360808 Free PMC article.
Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD). Here, we have identified biallelic truncating CSPP1 (centrosome and spindle pole …
Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiat …
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2014 Jan 2;94(1):73-9. doi: 10.1016/j.ajhg.2013.11.010. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360803 Free PMC article.
However, despite rapid advances in this field, the majority of the genes that drive ciliopathies and the mechanisms that govern the pronounced phenotypic variability of this group of disorders remain poorly understood. Here, we show that mutations in CSPP1, which encodes a …
However, despite rapid advances in this field, the majority of the genes that drive ciliopathies and the mechanisms that govern the pronounc …
CSPP and CSPP-L associate with centrosomes and microtubules and differently affect microtubule organization.
Patzke S, Stokke T, Aasheim HC. Patzke S, et al. J Cell Physiol. 2006 Oct;209(1):199-210. doi: 10.1002/jcp.20725. J Cell Physiol. 2006. PMID: 16826565
We recently described the identification of a centrosome/spindle pole associated protein, CSPP, involved in cell cycle progression. ...Furthermore, normal mitotic phenotypes were observed in CSPP-L but not in CSPP transfectants. CSPP-L relocates …
We recently described the identification of a centrosome/spindle pole associated protein, CSPP, involved …
CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation.
Sternemalm J, Geimer S, Frikstad KA, Schink KO, Stokke T, Patzke S. Sternemalm J, et al. PLoS One. 2015 Aug 4;10(8):e0134789. doi: 10.1371/journal.pone.0134789. eCollection 2015. PLoS One. 2015. PMID: 26241740 Free PMC article.
Deleterious mutations of the Centrosome/Spindle Pole associated Protein 1 gene, CSPP1, are causative for Joubert-syndrome and Joubert-related developmental disorders. These disorders are defined by a characteristic mal-development …
Deleterious mutations of the Centrosome/Spindle Pole associated Protein 1 gene, CSPP1, are …
Characterization of the FAM110 gene family.
Hauge H, Patzke S, Aasheim HC. Hauge H, et al. Genomics. 2007 Jul;90(1):14-27. doi: 10.1016/j.ygeno.2007.03.002. Epub 2007 May 11. Genomics. 2007. PMID: 17499476 Free article.
We have previously characterized the centrosome/spindle pole-associated protein (CSPP) involved in cell cycle progression. ...The HUGO Nomenclature Committee has assigned these genes the names FAM110A-FAM110C. Studies of transfectants showed tha …
We have previously characterized the centrosome/spindle pole-associated protein (CSPP) involved in cell c …