HP c.269A>C ;(p.D90A)

Variant ID: 16-72092156-A-C

NM_005143.3(HP):c.269A>C;(p.D90A)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.

Neural Regeneration Research
Martinelli, Ilaria I; Zucchi, Elisabetta E; Simonini, Cecilia C; Gianferrari, Giulia G; Zamboni, Giovanna G; Pinti, Marcello M; Mandrioli, Jessica J
Publication Date: 2023-07

Variant appearance in text: HP: D90A
PubMed Link: 36571338
Variant Present in the following documents:
  • NRR-18-1427.pdf
View BVdb publication page



Understanding the Rice Fungal Pathogen Tilletia horrida from Multiple Perspectives.

Rice (New York, N.Y.)
Wang, Aijun A; Shu, Xinyue X; Xu, Deze D; Jiang, Yuqi Y; Liang, Juan J; Yi, Xiaoqun X; Zhu, Jianqing J; Yang, Feng F; Jiao, Chunhai C; Zheng, Aiping A; Yin, Desuo D; Li, Ping P
Publication Date: 2022-12-16

Variant appearance in text: HP: D90A
PubMed Link: 36522490
Variant Present in the following documents:
  • 12284_2022_Article_612.pdf
View BVdb publication page



Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.

Frontiers In Immunology
Fliegauf, Manfred M; Kinnunen, Matias M; Posadas-Cantera, Sara S; Camacho-Ordonez, Nadezhda N; Abolhassani, Hassan H; Alsina, Laia L; Atschekzei, Faranaz F; Bogaert, Delfien J DJ; Burns, Siobhan O SO; Church, Joseph A JA; Dückers, Gregor G; Freeman, Alexandra F AF; Hammarström, Lennart L; Hanitsch, Leif Gunnar LG; Kerre, Tessa T; Kobbe, Robin R; Sharapova, Svetlana O SO; Siepermann, Kathrin K; Speckmann, Carsten C; Steiner, Sophie S; Verma, Nisha N; Walter, Jolan E JE; Westermann-Clark, Emma E; Goldacker, Sigune S; Warnatz, Klaus K; Varjosalo, Markku M; Grimbacher, Bodo B
Publication Date: 2022

Variant appearance in text: HP: 269A>C
PubMed Link: 36105815
Variant Present in the following documents:
  • fimmu-13-965326.pdf
View BVdb publication page



Mild motor impairment as prodromal state in amyotrophic lateral sclerosis: a new diagnostic entity.

Brain : A Journal Of Neurology
Benatar, Michael M; Granit, Volkan V; Andersen, Peter M PM; Grignon, Anne-Laure AL; McHutchison, Caroline C; Cosentino, Stephanie S; Malaspina, Andrea A; Wuu, Joanne J
Publication Date: 2022-10-21

Variant appearance in text: HP: D90A
PubMed Link: 35594156
Variant Present in the following documents:
  • awac185.pdf
View BVdb publication page



Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Nature Genetics
van Rheenen, Wouter W; van der Spek, Rick A A RAA; Bakker, Mark K MK; van Vugt, Joke J F A JJFA; Hop, Paul J PJ; Zwamborn, Ramona A J RAJ; de Klein, Niek N; Westra, Harm-Jan HJ; Bakker, Olivier B OB; Deelen, Patrick P; Shireby, Gemma G; Hannon, Eilis E; Moisse, Matthieu M; Baird, Denis D; Restuadi, Restuadi R; Dolzhenko, Egor E; Dekker, Annelot M AM; Gawor, Klara K; Westeneng, Henk-Jan HJ; Tazelaar, Gijs H P GHP; van Eijk, Kristel R KR; Kooyman, Maarten M; Byrne, Ross P RP; Doherty, Mark M; Heverin, Mark M; Al Khleifat, Ahmad A; Iacoangeli, Alfredo A; Shatunov, Aleksey A; Ticozzi, Nicola N; Cooper-Knock, Johnathan J; Smith, Bradley N BN; Gromicho, Marta M; Chandran, Siddharthan S; Pal, Suvankar S; Morrison, Karen E KE; Shaw, Pamela J PJ; Hardy, John J; Orrell, Richard W RW; Sendtner, Michael M; Meyer, Thomas T; Başak, Nazli N; van der Kooi, Anneke J AJ; Ratti, Antonia A; Fogh, Isabella I; Gellera, Cinzia C; Lauria, Giuseppe G; Corti, Stefania S; Cereda, Cristina C; Sproviero, Daisy D; D'Alfonso, Sandra S; Sorarù, Gianni G; Siciliano, Gabriele G; Filosto, Massimiliano M; Padovani, Alessandro A; Chiò, Adriano A; Calvo, Andrea A; Moglia, Cristina C; Brunetti, Maura M; Canosa, Antonio A; Grassano, Maurizio M; Beghi, Ettore E; Pupillo, Elisabetta E; Logroscino, Giancarlo G; Nefussy, Beatrice B; Osmanovic, Alma A; Nordin, Angelica A; Lerner, Yossef Y; Zabari, Michal M; Gotkine, Marc M; Baloh, Robert H RH; Bell, Shaughn S; Vourc'h, Patrick P; Corcia, Philippe P; Couratier, Philippe P; Millecamps, Stéphanie S; Meininger, Vincent V; Salachas, François F; Mora Pardina, Jesus S JS; Assialioui, Abdelilah A; Rojas-García, Ricardo R; Dion, Patrick A PA; Ross, Jay P JP; Ludolph, Albert C AC; Weishaupt, Jochen H JH; Brenner, David D; Freischmidt, Axel A; Bensimon, Gilbert G; Brice, Alexis A; Durr, Alexandra A; Payan, Christine A M CAM; Saker-Delye, Safa S; Wood, Nicholas W NW; Topp, Simon S; Rademakers, Rosa R; Tittmann, Lukas L; Lieb, Wolfgang W; Franke, Andre A; Ripke, Stephan S; Braun, Alice A; Kraft, Julia J; Whiteman, David C DC; Olsen, Catherine M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Rietschel, Marcella M; Cichon, Sven S; Nöthen, Markus M MM; Amouyel, Philippe P; , ; , ; , ; , ; Traynor, Bryan J BJ; Singleton, Andrew B AB; Mitne Neto, Miguel M; Cauchi, Ruben J RJ; Ophoff, Roel A RA; Wiedau-Pazos, Martina M; Lomen-Hoerth, Catherine C; van Deerlin, Vivianna M VM; Grosskreutz, Julian J; Roediger, Annekathrin A; Gaur, Nayana N; Jörk, Alexander A; Barthel, Tabea T; Theele, Erik E; Ilse, Benjamin B; Stubendorff, Beatrice B; Witte, Otto W OW; Steinbach, Robert R; Hübner, Christian A CA; Graff, Caroline C; Brylev, Lev L; Fominykh, Vera V; Demeshonok, Vera V; Ataulina, Anastasia A; Rogelj, Boris B; Koritnik, Blaž B; Zidar, Janez J; Ravnik-Glavač, Metka M; Glavač, Damjan D; Stević, Zorica Z; Drory, Vivian V; Povedano, Monica M; Blair, Ian P IP; Kiernan, Matthew C MC; Benyamin, Beben B; Henderson, Robert D RD; Furlong, Sarah S; Mathers, Susan S; McCombe, Pamela A PA; Needham, Merrilee M; Ngo, Shyuan T ST; Nicholson, Garth A GA; Pamphlett, Roger R; Rowe, Dominic B DB; Steyn, Frederik J FJ; Williams, Kelly L KL; Mather, Karen A KA; Sachdev, Perminder S PS; Henders, Anjali K AK; Wallace, Leanne L; de Carvalho, Mamede M; Pinto, Susana S; Petri, Susanne S; Weber, Markus M; Rouleau, Guy A GA; Silani, Vincenzo V; Curtis, Charles J CJ; Breen, Gerome G; Glass, Jonathan D JD; Brown, Robert H RH; Landers, John E JE; Shaw, Christopher E CE; Andersen, Peter M PM; Groen, Ewout J N EJN; van Es, Michael A MA; Pasterkamp, R Jeroen RJ; Fan, Dongsheng D; Garton, Fleur C FC; McRae, Allan F AF; Davey Smith, George G; Gaunt, Tom R TR; Eberle, Michael A MA; Mill, Jonathan J; McLaughlin, Russell L RL; Hardiman, Orla O; Kenna, Kevin P KP; Wray, Naomi R NR; Tsai, Ellen E; Runz, Heiko H; Franke, Lude L; Al-Chalabi, Ammar A; Van Damme, Philip P; van den Berg, Leonard H LH; Veldink, Jan H JH
Publication Date: 2021-12

Variant appearance in text: HP: D90A
PubMed Link: 34873335
Variant Present in the following documents:
  • Main text
  • 41588_2021_973_MOESM1_ESM.pdf
  • 41588_2021_Article_973.pdf
View BVdb publication page



Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Nature Genetics
van Rheenen, Wouter W; van der Spek, Rick A A RAA; Bakker, Mark K MK; van Vugt, Joke J F A JJFA; Hop, Paul J PJ; Zwamborn, Ramona A J RAJ; de Klein, Niek N; Westra, Harm-Jan HJ; Bakker, Olivier B OB; Deelen, Patrick P; Shireby, Gemma G; Hannon, Eilis E; Moisse, Matthieu M; Baird, Denis D; Restuadi, Restuadi R; Dolzhenko, Egor E; Dekker, Annelot M AM; Gawor, Klara K; Westeneng, Henk-Jan HJ; Tazelaar, Gijs H P GHP; van Eijk, Kristel R KR; Kooyman, Maarten M; Byrne, Ross P RP; Doherty, Mark M; Heverin, Mark M; Al Khleifat, Ahmad A; Iacoangeli, Alfredo A; Shatunov, Aleksey A; Ticozzi, Nicola N; Cooper-Knock, Johnathan J; Smith, Bradley N BN; Gromicho, Marta M; Chandran, Siddharthan S; Pal, Suvankar S; Morrison, Karen E KE; Shaw, Pamela J PJ; Hardy, John J; Orrell, Richard W RW; Sendtner, Michael M; Meyer, Thomas T; Başak, Nazli N; van der Kooi, Anneke J AJ; Ratti, Antonia A; Fogh, Isabella I; Gellera, Cinzia C; Lauria, Giuseppe G; Corti, Stefania S; Cereda, Cristina C; Sproviero, Daisy D; D'Alfonso, Sandra S; Sorarù, Gianni G; Siciliano, Gabriele G; Filosto, Massimiliano M; Padovani, Alessandro A; Chiò, Adriano A; Calvo, Andrea A; Moglia, Cristina C; Brunetti, Maura M; Canosa, Antonio A; Grassano, Maurizio M; Beghi, Ettore E; Pupillo, Elisabetta E; Logroscino, Giancarlo G; Nefussy, Beatrice B; Osmanovic, Alma A; Nordin, Angelica A; Lerner, Yossef Y; Zabari, Michal M; Gotkine, Marc M; Baloh, Robert H RH; Bell, Shaughn S; Vourc'h, Patrick P; Corcia, Philippe P; Couratier, Philippe P; Millecamps, Stéphanie S; Meininger, Vincent V; Salachas, François F; Mora Pardina, Jesus S JS; Assialioui, Abdelilah A; Rojas-García, Ricardo R; Dion, Patrick A PA; Ross, Jay P JP; Ludolph, Albert C AC; Weishaupt, Jochen H JH; Brenner, David D; Freischmidt, Axel A; Bensimon, Gilbert G; Brice, Alexis A; Durr, Alexandra A; Payan, Christine A M CAM; Saker-Delye, Safa S; Wood, Nicholas W NW; Topp, Simon S; Rademakers, Rosa R; Tittmann, Lukas L; Lieb, Wolfgang W; Franke, Andre A; Ripke, Stephan S; Braun, Alice A; Kraft, Julia J; Whiteman, David C DC; Olsen, Catherine M CM; Uitterlinden, Andre G AG; Hofman, Albert A; Rietschel, Marcella M; Cichon, Sven S; Nöthen, Markus M MM; Amouyel, Philippe P; , ; , ; , ; , ; Traynor, Bryan J BJ; Singleton, Andrew B AB; Mitne Neto, Miguel M; Cauchi, Ruben J RJ; Ophoff, Roel A RA; Wiedau-Pazos, Martina M; Lomen-Hoerth, Catherine C; van Deerlin, Vivianna M VM; Grosskreutz, Julian J; Roediger, Annekathrin A; Gaur, Nayana N; Jörk, Alexander A; Barthel, Tabea T; Theele, Erik E; Ilse, Benjamin B; Stubendorff, Beatrice B; Witte, Otto W OW; Steinbach, Robert R; Hübner, Christian A CA; Graff, Caroline C; Brylev, Lev L; Fominykh, Vera V; Demeshonok, Vera V; Ataulina, Anastasia A; Rogelj, Boris B; Koritnik, Blaž B; Zidar, Janez J; Ravnik-Glavač, Metka M; Glavač, Damjan D; Stević, Zorica Z; Drory, Vivian V; Povedano, Monica M; Blair, Ian P IP; Kiernan, Matthew C MC; Benyamin, Beben B; Henderson, Robert D RD; Furlong, Sarah S; Mathers, Susan S; McCombe, Pamela A PA; Needham, Merrilee M; Ngo, Shyuan T ST; Nicholson, Garth A GA; Pamphlett, Roger R; Rowe, Dominic B DB; Steyn, Frederik J FJ; Williams, Kelly L KL; Mather, Karen A KA; Sachdev, Perminder S PS; Henders, Anjali K AK; Wallace, Leanne L; de Carvalho, Mamede M; Pinto, Susana S; Petri, Susanne S; Weber, Markus M; Rouleau, Guy A GA; Silani, Vincenzo V; Curtis, Charles J CJ; Breen, Gerome G; Glass, Jonathan D JD; Brown, Robert H RH; Landers, John E JE; Shaw, Christopher E CE; Andersen, Peter M PM; Groen, Ewout J N EJN; van Es, Michael A MA; Pasterkamp, R Jeroen RJ; Fan, Dongsheng D; Garton, Fleur C FC; McRae, Allan F AF; Davey Smith, George G; Gaunt, Tom R TR; Eberle, Michael A MA; Mill, Jonathan J; McLaughlin, Russell L RL; Hardiman, Orla O; Kenna, Kevin P KP; Wray, Naomi R NR; Tsai, Ellen E; Runz, Heiko H; Franke, Lude L; Al-Chalabi, Ammar A; Van Damme, Philip P; van den Berg, Leonard H LH; Veldink, Jan H JH
Publication Date: 2021-12

Variant appearance in text: HP: D90A
PubMed Link: 34873335
Variant Present in the following documents:
  • Main text
  • 41588_2021_973_MOESM1_ESM.pdf
  • 41588_2021_Article_973.pdf
View BVdb publication page



Structure and dynamics of the chromatin remodeler ALC1 bound to a PARylated nucleosome.

Elife
Bacic, Luka L; Gaullier, Guillaume G; Sabantsev, Anton A; Lehmann, Laura C LC; Brackmann, Klaus K; Dimakou, Despoina D; Halic, Mario M; Hewitt, Graeme G; Boulton, Simon J SJ; Deindl, Sebastian S
Publication Date: 2021-09-06

Variant appearance in text: HP: D90A
PubMed Link: 34486521
Variant Present in the following documents:
  • Main text
  • elife-71420.pdf
View BVdb publication page



Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Journal Of Neurology
Bartoletti-Stella, Anna A; Vacchiano, Veria V; De Pasqua, Silvia S; Mengozzi, Giacomo G; De Biase, Dario D; Bartolomei, Ilaria I; Avoni, Patrizia P; Rizzo, Giovanni G; Parchi, Piero P; Donadio, Vincenzo V; Chiò, Adriano A; Pession, Annalisa A; Oppi, Federico F; Salvi, Fabrizio F; Liguori, Rocco R; Capellari, Sabina S; ,
Publication Date: 2021-10

Variant appearance in text: HP: D90A
PubMed Link: 33770234
Variant Present in the following documents:
  • 415_2021_Article_10521.pdf
View BVdb publication page



Structural insights into phosphatidylethanolamine formation in bacterial membrane biogenesis.

Scientific Reports
Cho, Gyuhyeok G; Lee, Eunju E; Kim, Jungwook J
Publication Date: 2021-03-11

Variant appearance in text: HP: D90A
PubMed Link: 33707636
Variant Present in the following documents:
  • Main text
View BVdb publication page



New targets for drug design: importance of nsp14/nsp10 complex formation for the 3'-5' exoribonucleolytic activity on SARS-CoV-2.

The Febs Journal
Saramago, Margarida M; Bárria, Cátia C; Costa, Vanessa G VG; Souza, Caio S CS; Viegas, Sandra C SC; Domingues, Susana S; Lousa, Diana D; Soares, Cláudio M CM; Arraiano, Cecília M CM; Matos, Rute G RG
Publication Date: 2021-09

Variant appearance in text: HP: D90A
PubMed Link: 33705595
Variant Present in the following documents:
  • Main text
  • FEBS-9999-.pdf
View BVdb publication page



Mechanistic Insights into Regulation of the ALC1 Remodeler by the Nucleosome Acidic Patch.

Cell Reports
Lehmann, Laura C LC; Bacic, Luka L; Hewitt, Graeme G; Brackmann, Klaus K; Sabantsev, Anton A; Gaullier, Guillaume G; Pytharopoulou, Sofia S; Degliesposti, Gianluca G; Okkenhaug, Hanneke H; Tan, Song S; Costa, Alessandro A; Skehel, J Mark JM; Boulton, Simon J SJ; Deindl, Sebastian S
Publication Date: 2020-12-22

Variant appearance in text: HP: D90A
PubMed Link: 33357431
Variant Present in the following documents:
  • EMS117809.pdf
View BVdb publication page



Auto-antibody evaluation in idiopathic interstitial pneumonia and worse survival of patients with Ro52/TRIM21auto-antibody.

Journal Of Clinical Biochemistry And Nutrition
Morita, Hiroko H; Shimizu, Yasuo Y; Nakamura, Yusuke Y; Okutomi, Hiroaki H; Watanabe, Taiji T; Yokoyama, Tatsuya T; Soda, Sayo S; Ikeda, Naoya N; Shiobara, Taichi T; Miyoshi, Masaaki M; Chibana, Kazuyuki K; Takemasa, Akihiro A; Kurasawa, Kazuhiro K
Publication Date: 2020-09

Variant appearance in text: HP: D90A
PubMed Link: 33041518
Variant Present in the following documents:
  • Main text
View BVdb publication page



Biomarkers in Motor Neuron Disease: A State of the Art Review.

Frontiers In Neurology
Verber, Nick S NS; Shepheard, Stephanie R SR; Sassani, Matilde M; McDonough, Harry E HE; Moore, Sophie A SA; Alix, James J P JJP; Wilkinson, Iain D ID; Jenkins, Tom M TM; Shaw, Pamela J PJ
Publication Date: 2019

Variant appearance in text: HP: D90A
PubMed Link: 31001186
Variant Present in the following documents:
  • fneur-10-00291.pdf
View BVdb publication page



White Matter Microstructure Breakdown in the Motor Neuron Disease Spectrum: Recent Advances Using Diffusion Magnetic Resonance Imaging.

Frontiers In Neurology
Basaia, Silvia S; Filippi, Massimo M; Spinelli, Edoardo G EG; Agosta, Federica F
Publication Date: 2019

Variant appearance in text: HP: D90A
PubMed Link: 30891004
Variant Present in the following documents:
  • fneur-10-00193.pdf
View BVdb publication page



Imaging Cerebral Activity in Amyotrophic Lateral Sclerosis.

Frontiers In Neurology
Proudfoot, Malcolm M; Bede, Peter P; Turner, Martin R MR
Publication Date: 2018

Variant appearance in text: HP: D90A
PubMed Link: 30671016
Variant Present in the following documents:
  • fneur-09-01148.pdf
View BVdb publication page



Engineering induction of singular neural rosette emergence within hPSC-derived tissues.

Elife
Knight, Gavin T GT; Lundin, Brady F BF; Iyer, Nisha N; Ashton, Lydia Mt LM; Sethares, William A WA; Willett, Rebecca M RM; Ashton, Randolph Scott RS
Publication Date: 2018-10-29

Variant appearance in text: HP: D90A
PubMed Link: 30371350
Variant Present in the following documents:
  • elife-37549.pdf
View BVdb publication page



A Screen for Epstein-Barr Virus Proteins That Inhibit the DNA Damage Response Reveals a Novel Histone Binding Protein.

Journal Of Virology
Ho, Ting-Hin TH; Sitz, Justine J; Shen, Qingtang Q; Leblanc-Lacroix, Ariane A; Campos, Eric I EI; Borozan, Ivan I; Marcon, Edyta E; Greenblatt, Jack J; Fradet-Turcotte, Amelie A; Jin, Dong-Yan DY; Frappier, Lori L
Publication Date: 2018-07-15

Variant appearance in text: HP: D90A
PubMed Link: 29743367
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synapses in neurodegenerative diseases.

Bmb Reports
Bae, Jae Ryul JR; Kim, Sung Hyun SH
Publication Date: 2017-05

Variant appearance in text: HP: D90A
PubMed Link: 28270301
Variant Present in the following documents:
  • bmb-50-237.pdf
View BVdb publication page



Neuroimaging Endpoints in Amyotrophic Lateral Sclerosis.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Menke, Ricarda A L RA; Agosta, Federica F; Grosskreutz, Julian J; Filippi, Massimo M; Turner, Martin R MR
Publication Date: 2017-01

Variant appearance in text: HP: D90A
PubMed Link: 27752938
Variant Present in the following documents:
  • 13311_2016_Article_484.pdf
View BVdb publication page



Genotype-phenotype correlations of amyotrophic lateral sclerosis.

Translational Neurodegeneration
Li, Hong-Fu HF; Wu, Zhi-Ying ZY
Publication Date: 2016

Variant appearance in text: HP: Asp90Ala
PubMed Link: 26843957
Variant Present in the following documents:
  • 40035_2016_Article_50.pdf
View BVdb publication page



What does imaging reveal about the pathology of amyotrophic lateral sclerosis?

Current Neurology And Neuroscience Reports
Turner, Martin R MR; Verstraete, Esther E
Publication Date: 2015-07

Variant appearance in text: HP: D90A
PubMed Link: 26008817
Variant Present in the following documents:
  • 11910_2015_Article_569.pdf
View BVdb publication page



Biophysical characterization of the dimer and tetramer interface interactions of the human cytosolic malic enzyme.

Plos One
Murugan, Sujithkumar S; Hung, Hui-Chih HC
Publication Date: 2012

Variant appearance in text: HP: D90A
PubMed Link: 23284632
Variant Present in the following documents:
  • pone.0050143.pdf
View BVdb publication page



Amyotrophic lateral sclerosis: one or multiple causes?

Neurology International
Bastos, Aline Furtado AF; Orsini, Marco M; Machado, Dionis D; Mello, Mariana Pimentel MP; Nader, Sergio S; Silva, Júlio Guilherme JG; da Silva Catharino, Antonio M AM; de Freitas, Marcos R G MR; Pereira, Alessandra A; Pessoa, Luciane Lacerda LL; Sztajnbok, Flavio R FR; Leite, Marco Araújo MA; Nascimento, Osvaldo J M OJ; Bastos, Victor Hugo VH
Publication Date: 2011-06

Variant appearance in text: HP: D90A
PubMed Link: 21785676
Variant Present in the following documents:
  • ni-2011-1-e4.pdf
View BVdb publication page