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1.
Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series
Ana Luísa de Almeida Marcelino, Tina Mainka, Patricia Krause, Werner Poewe, Christos Ganos, Andrea A. Kühn
J Neurol. 2020; 267(12): 3624–3631. Published online 2020 Jul 9. doi: 10.1007/s00415-020-09871-8
PMCID:
PMC7674568
AbstractArticlePDF–551K
2.
Common genetic variants in ADCY5 and gestational glycemic traits
Rong Lin, Ziyu Yuan, Caicai Zhang, Hongfang Ju, Yuantian Sun, Na Huang, Langxin Chen, Li Jin
PLoS One. 2020; 15(3): e0230032. Published online 2020 Mar 12. doi: 10.1371/journal.pone.0230032
PMCID:
PMC7067392
AbstractArticlePDF–1016K
3.
Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements
Aurélie Méneret, Emmanuel Roze, Jean-Baptiste Maranci, Pauline Dodet, Diane Doummar, Florence Riant, Christine Tranchant, Valérie Fraix, Mathieu Anheim, Asya Ekmen, Eavan McGovern, Marie Vidailhet, Isabelle Arnulf, Smaranda Leu-Semenescu
J Clin Sleep Med. 2019 Jul 15; 15(7): 1021–1029. Published online 2019 Jul 15. doi: 10.5664/jcsm.7886
PMCID:
PMC6622513
AbstractArticlePDF–637K
4.
A Type 2 Diabetes–Associated Functional Regulatory Variant in a Pancreatic Islet Enhancer at the ADCY5 Locus
Tamara S. Roman, Maren E. Cannon, Swarooparani Vadlamudi, Martin L. Buchkovich, Brooke N. Wolford, Ryan P. Welch, Mario A. Morken, Grace J. Kwon, Arushi Varshney, Romy Kursawe, Ying Wu, Anne U. Jackson, National Institutes of Health Intramural Sequencing Center (NISC) Comparative Sequencing Program, Michael R. Erdos, Johanna Kuusisto, Markku Laakso, Laura J. Scott, Michael Boehnke, Francis S. Collins, Stephen C.J. Parker, Michael L. Stitzel, Karen L. Mohlke
Diabetes. 2017 Sep; 66(9): 2521–2530. Published online 2017 Jul 6. doi: 10.2337/db17-0464
PMCID:
PMC5860374
AbstractArticlePDF–1.1M
5.
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
Miryam Carecchio, Niccolò E. Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P. Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
Parkinsonism Relat Disord. 2017 Aug; 41: 37–43. doi: 10.1016/j.parkreldis.2017.05.004
PMCID:
PMC5549507
AbstractArticlePDF–408K
6.
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia
Andrew G. L. Douglas, Gaia Andreoletti, Kevin Talbot, Simon R. Hammans, Jaspal Singh, Andrea Whitney, Sarah Ennis, Nicola C. Foulds
Neurogenetics. 2017; 18(2): 111–117. Published online 2017 Feb 22. doi: 10.1007/s10048-017-0510-z
PMCID:
PMC5359383
AbstractArticlePDF–780K
7.
Phenotypic insights into ADCY5‐associated disease
Florence C.F. Chang, Ana Westenberger, Russell C. Dale, Martin Smith, Hardev S. Pall, Belen Perez‐Dueñas, Padraic Grattan‐Smith, Robert A. Ouvrier, Neil Mahant, Bernadette C. Hanna, Matthew Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G.L. Morris, Alex Münchau, Detelina Grozeva, Keren J. Carss, Lucy Raymond, Manju A. Kurian, Christine Klein, Victor S.C. Fung
Mov Disord. 2016 Jul; 31(7): 1033–1040. Published online 2016 Apr 8. doi: 10.1002/mds.26598
PMCID:
PMC4950003
AbstractArticlePDF–366K
8.
ADCY5 Mutation Carriers Display Pleiotropic Paroxysmal Day and Nighttime Dyskinesias
Jennifer R Friedman, Aurélie Méneret, Dong-Hui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H. Raskind, Emmanuel Roze
Mov Disord. Author manuscript; available in PMC 2017 Jan 1.
Published in final edited form as: Mov Disord. 2016 Jan; 31(1): 147–148. Published online 2015 Dec 21. doi: 10.1002/mds.26494
PMCID:
PMC4724296
ArticlePDF–370K
9.
ADCY5 mutations are another cause of benign hereditary chorea
Niccolo E. Mencacci, Roberto Erro, Sarah Wiethoff, Joshua Hersheson, Mina Ryten, Bettina Balint, Christos Ganos, Maria Stamelou, Niall Quinn, Henry Houlden, Nicholas W. Wood, Kailash P. Bhatia
Neurology. 2015 Jul 7; 85(1): 80–88. doi: 10.1212/WNL.0000000000001720
PMCID:
PMC4501937
AbstractArticlePDF–651K
10.
AKAP79 Interacts with Multiple Adenylyl Cyclase (AC) Isoforms and Scaffolds AC5 and -6 to α-Amino-3-hydroxyl-5-methyl-4-isoxazole-propionate (AMPA) Receptors
Riad Efendiev, Bret K. Samelson, Bao T. Nguyen, Prasad V. Phatarpekar, Faiza Baameur, John D. Scott, Carmen W. Dessauer
J Biol Chem. 2010 May 7; 285(19): 14450–14458. Published online 2010 Mar 15. doi: 10.1074/jbc.M110.109769
PMCID:
PMC2863235
AbstractArticlePDF–2.1M
11.
N Terminus of Type 5 Adenylyl Cyclase Scaffolds Gs Heterotrimer
Rachna Sadana, Nathan Dascal, Carmen W. Dessauer
Mol Pharmacol. 2009 Dec; 76(6): 1256–1264. doi: 10.1124/mol.109.058370
PMCID:
PMC2784731
AbstractArticlePDF–1.2M
12.
Gαi1 inhibition mechanism of ATP-bound adenylyl cyclase type 5
Daniele Narzi, Siri C. van Keulen, Ursula Röthlisberger
PLoS One. 2021; 16(1): e0245197. Published online 2021 Jan 25. doi: 10.1371/journal.pone.0245197
PMCID:
PMC7833170
AbstractArticlePDF–2.7M
13.
Gain-of-Function ADCY5 Mutations in Familial Dyskinesia with Facial Myokymia
Ying-Zhang Chen, Jennifer R. Friedman, Dong-Hui Chen, Guy C.-K. Chan, Cinnamon S. Bloss, Fuki M. Hisama, Sarah E. Topol, Andrew R. Carson, Phillip H. Pham, Emily S. Bonkowski, Erick R. Scott, Janel K. Lee, Guangfa Zhang, Glenn Oliveira, Jian Xu, Ashley A. Scott-Van Zeeland, Qi Chen, Samuel Levy, Eric J. Topol, Daniel Storm, Phillip D. Swanson, Thomas D. Bird, Nicholas J. Schork, Wendy H. Raskind, Ali Torkamani
Ann Neurol. Author manuscript; available in PMC 2015 Jun 5.
Published in final edited form as: Ann Neurol. 2014 Apr; 75(4): 542–549. Published online 2014 Mar 13. doi: 10.1002/ana.24119
PMCID:
PMC4457323
AbstractArticlePDF–1.6M
14.
ADCY5 Gene Expression in Adipose Tissue Is Related to Obesity in Men and Mice
Anja Knigge, Nora Klöting, Michael R. Schön, Arne Dietrich, Mathias Fasshauer, Daniel Gärtner, Tobias Lohmann, Miriam Dreßler, Michael Stumvoll, Peter Kovacs, Matthias Blüher
PLoS One. 2015; 10(3): e0120742. Published online 2015 Mar 20. doi: 10.1371/journal.pone.0120742
PMCID:
PMC4368112
AbstractArticlePDF–204K
15.
ADCY5 Couples Glucose to Insulin Secretion in Human Islets
David J. Hodson, Ryan K. Mitchell, Lorella Marselli, Timothy J. Pullen, Silvia Gimeno Brias, Francesca Semplici, Katy L. Everett, Dermot M.F. Cooper, Marco Bugliani, Piero Marchetti, Vanessa Lavallard, Domenico Bosco, Lorenzo Piemonti, Paul R. Johnson, Stephen J. Hughes, Daliang Li, Wen-Hong Li, A.M. James Shapiro, Guy A. Rutter
Diabetes. 2014 Sep; 63(9): 3009–3021. Published online 2014 Aug 16. doi: 10.2337/db13-1607
PMCID:
PMC4141364
AbstractArticlePDF–6.0M
16.
Genetic Markers of Co-Morbid Depression and Alcoholism in Women
Daniela O. Procopio, Laura M. Saba, Henriette Walter, Otto Lesch, Katrin Skala, Golda Schlaff, Lauren Vanderlinden, Peter Clapp, Paula L. Hoffman, Boris Tabakoff
Alcohol Clin Exp Res. Author manuscript; available in PMC 2014 Jun 1.
Published in final edited form as: Alcohol Clin Exp Res. 2013 Jun; 37(6): 896–904. Published online 2012 Dec 27. doi: 10.1111/acer.12060
PMCID:
PMC3620932
AbstractArticlePDF–1.2M
17.
Genome-wide DNA methylation profiling of chronic lymphocytic leukemia allows identification of epigenetically repressed molecular pathways with clinical impact
Wei-Gang Tong, William G. Wierda, E. Lin, Shao-Qing Kuang, B. Nebiyou Bekele, Zeev Estrov, Yue Wei, Hui Yang, Michael J Keating, Guillermo Garcia-Manero
Epigenetics. 2010 Aug 16; 5(6): 499–508. doi: 10.4161/epi.5.6.12179
PMCID:
PMC3322493
AbstractArticlePDF–2.3M
18.
Effects of 16 Genetic Variants on Fasting Glucose and Type 2 Diabetes in South Asians: ADCY5 and GLIS3 Variants May Predispose to Type 2 Diabetes
Simon D. Rees, M. Zafar I. Hydrie, J. Paul O'Hare, Sudhesh Kumar, A. Samad Shera, Abdul Basit, Anthony H. Barnett, M. Ann Kelly
PLoS One. 2011; 6(9): e24710. Published online 2011 Sep 20. doi: 10.1371/journal.pone.0024710
PMCID:
PMC3176767
AbstractArticlePDF–414K
19.
Absence of Birth-Weight Lowering Effect of ADCY5 and Near CCNL, but Association of Impaired Glucose-Insulin Homeostasis with ADCY5 in Asian Indians
Senthil K. Vasan, Matt J. Neville, Belavendra Antonisamy, Prasanna Samuel, Caroline H. Fall, Finney S. Geethanjali, Nihal Thomas, Palany Raghupathy, Kerstin Brismar, Fredrik Karpe
PLoS One. 2011; 6(6): e21331. Published online 2011 Jun 21. doi: 10.1371/journal.pone.0021331
PMCID:
PMC3119677
AbstractArticlePDF–96K
20.
Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men
Berenice Rivera-Paredez, Diana I. Aparicio-Bautista, Anna D. Argoty-Pantoja, Nelly Patiño, Jeny Flores Morales, Jorge Salmerón, Guadalupe León-Reyes, Rafael Velázquez-Cruz
Int J Mol Sci. 2022 Oct; 23(19): 11815. Published online 2022 Oct 5. doi: 10.3390/ijms231911815
PMCID:
PMC9569691
AbstractArticlePDF–1.3M

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