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See also: AGTPBP1 ATP/GTP binding protein 1 in the Gene database

agtpbp1 in Homo sapiensMus musculusRattus norvegicusAll 297 Gene records

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Items: 1 to 20 of 48

1.

Avian Binocularity and Adaptation to Nocturnal Environments: Genomic Insights from a Highly Derived Visual Phenotype.

Borges R, Fonseca J, Gomes C, Johnson WE, O'Brien SJ, Zhang G, Gilbert MTP, Jarvis ED, Antunes A.

Genome Biol Evol. 2019 Aug 1;11(8):2244-2255. doi: 10.1093/gbe/evz111.

2.

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.

Karakaya M, Paketci C, Altmueller J, Thiele H, Hoelker I, Yis U, Wirth B.

Am J Med Genet A. 2019 Aug;179(8):1580-1584. doi: 10.1002/ajmg.a.61198. Epub 2019 May 18.

PMID:
31102495
3.

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.

Sheffer R, Gur M, Brooks R, Salah S, Daana M, Fraenkel N, Eisenstein E, Rabie M, Nevo Y, Jalas C, Elpeleg O, Edvardson S, Harel T.

Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11.

PMID:
30976113
4.

Nucleolin reorganization and nucleolar stress in Purkinje cells of mutant PCD mice.

Baltanás FC, Berciano MT, Tapia O, Narcis JO, Lafarga V, Díaz D, Weruaga E, Santos E, Lafarga M.

Neurobiol Dis. 2019 Jul;127:312-322. doi: 10.1016/j.nbd.2019.03.017. Epub 2019 Mar 21.

PMID:
30905767
5.

Motor Performances of Spontaneous and Genetically Modified Mutants with Cerebellar Atrophy.

Lalonde R, Strazielle C.

Cerebellum. 2019 Jun;18(3):615-634. doi: 10.1007/s12311-019-01017-5. Review.

PMID:
30820866
6.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schöneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzmán-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network, Schoser B, Rösler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bönnemann CG, Gleeson JG, Martini R, Janke C, Senderek J.

EMBO J. 2018 Dec 3;37(23). pii: e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.

PMID:
30420557
7.

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS.

Genet Med. 2019 Mar;21(3):736-742. doi: 10.1038/s41436-018-0138-x. Epub 2018 Sep 21.

8.

Deletion of exons encoding carboxypeptidase domain of Nna1 results in Purkinje cell degeneration (pcd) phenotype.

Zhou L, Hossain MI, Yamazaki M, Abe M, Natsume R, Konno K, Kageyama S, Komatsu M, Watanabe M, Sakimura K, Takebayashi H.

J Neurochem. 2018 Nov;147(4):557-572. doi: 10.1111/jnc.14591. Epub 2018 Nov 6.

PMID:
30225910
9.

Cytoskeleton stability is essential for the integrity of the cerebellum and its motor- and affective-related behaviors.

Muñoz-Castañeda R, Díaz D, Peris L, Andrieux A, Bosc C, Muñoz-Castañeda JM, Janke C, Alonso JR, Moutin MJ, Weruaga E.

Sci Rep. 2018 Feb 15;8(1):3072. doi: 10.1038/s41598-018-21470-2.

10.

Identification of three genetic variants as novel susceptibility loci for body mass index in a Japanese population.

Yasukochi Y, Sakuma J, Takeuchi I, Kato K, Oguri M, Fujimaki T, Horibe H, Yamada Y.

Physiol Genomics. 2018 Mar 1;50(3):179-189. doi: 10.1152/physiolgenomics.00117.2017. Epub 2018 Jan 12.

11.

Identification of genome-wide SNP-SNP interactions associated with important traits in chicken.

Zhang H, Yu JQ, Yang LL, Kramer LM, Zhang XY, Na W, Reecy JM, Li H.

BMC Genomics. 2017 Nov 21;18(1):892. doi: 10.1186/s12864-017-4252-y.

12.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS.

Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.

13.

Construction of human MASP-2-CCP1/2SP, CCP2SP, SP plasmid DNA nanolipoplexes and the effects on tuberculosis in BCG-infected mice.

Gao Q, Dong X, Luo Y, Zhang G, Shan J, Wang Q, He Q, Zhang L, Wang J, Zhu B, Ma X.

Microb Pathog. 2017 Aug;109:200-208. doi: 10.1016/j.micpath.2017.05.043. Epub 2017 May 31.

PMID:
28578092
14.

Lack of Cytosolic Carboxypeptidase 1 Leads to Subfertility due to the Reduced Number of Antral Follicles in pcd3J-/- Females.

Song N, Kim N, Xiao R, Choi H, Chun HI, Kang MH, Kim JH, Seo K, Soundrarajan N, Do JT, Song H, Ge ZJ, Park C.

PLoS One. 2015 Oct 9;10(10):e0139557. doi: 10.1371/journal.pone.0139557. eCollection 2015.

15.

Mutagenesis Screen Identifies agtpbp1 and eps15L1 as Essential for T lymphocyte Development in Zebrafish.

Seiler C, Gebhart N, Zhang Y, Shinton SA, Li YS, Ross NL, Liu X, Li Q, Bilbee AN, Varshney GK, LaFave MC, Burgess SM, Balciuniene J, Balciunas D, Hardy RR, Kappes DJ, Wiest DL, Rhodes J.

PLoS One. 2015 Jul 10;10(7):e0131908. doi: 10.1371/journal.pone.0131908. eCollection 2015.

16.

Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72.

Kitano S, Kino Y, Yamamoto Y, Takitani M, Miyoshi J, Ishida T, Saito Y, Arima K, Satoh J.

J Cent Nerv Syst Dis. 2015 Jun 8;7:15-26. doi: 10.4137/JCNSD.S24317. eCollection 2015.

17.

Comparison of the enzymatic and functional properties of three cytosolic carboxypeptidase family members.

Wu HY, Rong Y, Correia K, Min J, Morgan JI.

J Biol Chem. 2015 Jan 9;290(2):1222-32. doi: 10.1074/jbc.M114.604850. Epub 2014 Nov 21.

18.

C-terminomics screen for natural substrates of cytosolic carboxypeptidase 1 reveals processing of acidic protein C termini.

Tanco S, Tort O, Demol H, Aviles FX, Gevaert K, Van Damme P, Lorenzo J.

Mol Cell Proteomics. 2015 Jan;14(1):177-90. doi: 10.1074/mcp.M114.040360. Epub 2014 Nov 7.

19.

Cytosolic carboxypeptidase CCP6 is required for megakaryopoiesis by modulating Mad2 polyglutamylation.

Ye B, Li C, Yang Z, Wang Y, Hao J, Wang L, Li Y, Du Y, Hao L, Liu B, Wang S, Xia P, Huang G, Sun L, Tian Y, Fan Z.

J Exp Med. 2014 Nov 17;211(12):2439-54. doi: 10.1084/jem.20141123. Epub 2014 Oct 20.

20.

Quantitative peptidomics of Purkinje cell degeneration mice.

Berezniuk I, Sironi JJ, Wardman J, Pasek RC, Berbari NF, Yoder BK, Fricker LD.

PLoS One. 2013 Apr 8;8(4):e60981. doi: 10.1371/journal.pone.0060981. Print 2013.

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