Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disability

被引：0
|
作者：
Azza Al-Tawashi
Chris Gehring
机构：
[1] Baylor College of Medicine,Center for Molecular Discovery, Verna and Marrs McLean Department of Biochemistry and Molecular Biology
[2] King Abdullah University of Science and Technology,Division of Chemical and Life Sciences and Engineering
来源：
Cell Communication and Signaling | / 11卷
关键词：
Phosphodiesterase activity; cAMP-PKA pathway; CC2D1A; Non-syndromic intellectual disability;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [41] Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort
    Streata, Ioana
    Caramizaru, Alexandru
    Riza, Anca-Lelia
    Serban-Sosoi, Simona
    Pirvu, Andrei
    Cara, Monica-Laura
    Cucu, Mihai-Gabriel
    Dobrescu, Amelia Mihaela
    Shelby, Elena-Silvia
    Albeanu, Adriana
    Burada, Florin
    Ioana, Mihai
    DIAGNOSTICS, 2022, 12 (12)
  • [42] Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability
    Houge, G.
    Rasmussen, I. H.
    Hovland, R.
    MOLECULAR SYNDROMOLOGY, 2011, 2 (02) : 60 - 63
  • [43] Disregulation of Autophagy in the Transgenerational Cc2d1a Mouse Model of Autism
    Dana, Halime
    Bayramov, Keziban Korkmaz
    Delibasi, Nesrin
    Tahtasakal, Reyhan
    Bayramov, Ruslan
    Hamurcu, Zuhal
    Sener, Elif Funda
    NEUROMOLECULAR MEDICINE, 2020, 22 (02) : 239 - 249
  • [44] CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis
    Manzini, M. Chiara
    Xiong, Lan
    Shaheen, Ranad
    Tambunan, Dimira E.
    Di Costanzo, Stefania
    Mitisalis, Vanessa
    Tischfield, David J.
    Cinquino, Antonella
    Ghaziuddin, Mohammed
    Christian, Mehtab
    Jiang, Qin
    Laurent, Sandra
    Nanjiani, Zohair A.
    Rasheed, Saima
    Hill, R. Sean
    Lizarraga, Sofia B.
    Gleason, Danielle
    Sabbagh, Diya
    Salih, Mustafa A.
    Alkuraya, Fowzan S.
    Walsh, Christopher A.
    CELL REPORTS, 2014, 8 (03): : 647 - 655
  • [45] Non-syndromic Intellectual Disability: An Experimental In-Depth Exploration of Inheritance Pattern, Phenotypic Presentation, and Genomic Composition
    Khan, Qaisar Ali
    Khan, Rohail
    Verma, Ravina
    Shah, Suchi D.
    Vattikuti, Bhavana
    Khan, Aleena Z.
    Shahzadi, Andia
    Abdi, Parsa
    Anthony, Michelle
    Farkouh, Christopher S.
    Farkouh, Matthew
    Santiago, Natalia
    Zepeda, David
    Nunez, Andrew
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (01)
  • [46] A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
    Amin, Mutaz
    Vignal, Cedric
    Eltaraifee, Esraa
    Mohammed, Inaam N.
    Hamed, Ahlam A. A.
    Elseed, Maha A.
    Babai, Arwa
    Elbadi, Iman
    Mustafa, Doua
    Abubaker, Rayan
    Mustafa, Mohamed
    Drunat, Severine
    Elsayed, Liena E. O.
    Ahmed, Ammar E.
    Boespflug-Tanguy, Odile
    Dorboz, Imen
    BMC MEDICAL GENOMICS, 2022, 15 (01)
  • [47] A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
    Mutaz Amin
    Cedric Vignal
    Esraa Eltaraifee
    Inaam N. Mohammed
    Ahlam A. A. Hamed
    Maha A. Elseed
    Arwa Babai
    Iman Elbadi
    Doua Mustafa
    Rayan Abubaker
    Mohamed Mustafa
    Severine Drunat
    Liena E. O. Elsayed
    Ammar E. Ahmed
    Odile Boespflug-Tanguy
    Imen Dorboz
    BMC Medical Genomics, 15
  • [48] Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies
    Isabel Tejada, Maria
    Ibarluzea, Nekane
    CLINICAL GENETICS, 2020, 97 (05) : 677 - 687
  • [49] Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP
    Ropers, Fabienne
    Derivery, Emmanuel
    Hu, Hao
    Garshasbi, Masoud
    Karbasiyan, Mohsen
    Herold, Martin
    Nuernberg, Gudrun
    Ullmann, Reinhard
    Gautreau, Alexis
    Sperling, Karl
    Varon, Raymonda
    Rajab, Anna
    HUMAN MOLECULAR GENETICS, 2011, 20 (13) : 2585 - 2590
  • [50] Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene
    Rashvand, Zahra
    Najmabadi, Hossein
    Kahrizi, Kimia
    Mozhdehipanah, Hossein
    Moradi, Mohammad
    Estaki, Zohreh
    Taherkhani, Khadijeh
    Nikzat, Nooshin
    Najafipour, Reza
    Omrani, Mir Davood
    IRANIAN JOURNAL OF CHILD NEUROLOGY, 2024, 18 (01) : 25 - 41
12345