RUNX2 c.112_113delinsGC ;(p.K38A)

Variant ID: 6-45390383-AA-GC

NM_001024630.3(RUNX2):c.112_113delinsGC;(p.K38A)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Characteristics of NtCCD1-3 from tobacco, and protein engineering of the CCD1 to enhance -ionone production in yeast.

Frontiers In Microbiology
Gong, Xiaowei X; Li, Fan F; Liang, Yupeng Y; Han, Xiulin X; Wen, Mengliang M
Publication Date: 2022

Variant appearance in text: CCD1: K38A
PubMed Link: 36212872
Variant Present in the following documents:
  • Main text
  • fmicb-13-1011297.pdf
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Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics.

The Journal Of Cell Biology
Wong, Yvette C YC; Kim, Soojin S; Cisneros, Jasmine J; Molakal, Catherine G CG; Song, Pingping P; Lubbe, Steven J SJ; Krainc, Dimitri D
Publication Date: 2022-10-03

Variant appearance in text: CCD: K38A
PubMed Link: 36044022
Variant Present in the following documents:
  • Main text
  • JCB_202206140.pdf
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Mfn2 localization in the ER is necessary for its bioenergetic function and neuritic development.

Embo Reports
Casellas-Díaz, Sergi S; Larramona-Arcas, Raquel R; Riqué-Pujol, Guillem G; Tena-Morraja, Paula P; Müller-Sánchez, Claudia C; Segarra-Mondejar, Marc M; Gavaldà-Navarro, Aleix A; Villarroya, Francesc F; Reina, Manuel M; Martínez-Estrada, Ofelia M OM; Soriano, Francesc X FX
Publication Date: 2021-09-06

Variant appearance in text: CCD: K38A
PubMed Link: 34296790
Variant Present in the following documents:
  • Main text
  • EMBR-22-e51954.pdf
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NIX initiates mitochondrial fragmentation via DRP1 to drive epidermal differentiation.

Cell Reports
Simpson, Cory L CL; Tokito, Mariko K MK; Uppala, Ranjitha R; Sarkar, Mrinal K MK; Gudjonsson, Johann E JE; Holzbaur, Erika L F ELF
Publication Date: 2021-02-02

Variant appearance in text: CCD: K38A
PubMed Link: 33535046
Variant Present in the following documents:
  • Main text
  • nihms-1669639.pdf
  • NIHMS1669639-supplement-2.pdf
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Mul1 restrains Parkin-mediated mitophagy in mature neurons by maintaining ER-mitochondrial contacts.

Nature Communications
Puri, Rajat R; Cheng, Xiu-Tang XT; Lin, Mei-Yao MY; Huang, Ning N; Sheng, Zu-Hang ZH
Publication Date: 2019-08-13

Variant appearance in text: CCD: K38A
PubMed Link: 31409786
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_11636.pdf
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Ultrastructure and dynamics of the actin-myosin II cytoskeleton during mitochondrial fission.

Nature Cell Biology
Yang, Changsong C; Svitkina, Tatyana M TM
Publication Date: 2019-05

Variant appearance in text: CCD: K38A
PubMed Link: 30988424
Variant Present in the following documents:
  • Main text
  • nihms-1524087.pdf
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Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.

Neurobiology Of Disease
Genin, Emmanuelle C EC; Bannwarth, Sylvie S; Lespinasse, Françoise F; Ortega-Vila, Bernardo B; Fragaki, Konstantina K; Itoh, Kie K; Villa, Elodie E; Lacas-Gervais, Sandra S; Jokela, Manu M; Auranen, Mari M; Ylikallio, Emil E; Mauri-Crouzet, Alessandra A; Tyynismaa, Henna H; Vihola, Anna A; Augé, Gaelle G; Cochaud, Charlotte C; Sesaki, Hiromi H; Ricci, Jean-Ehrland JE; Udd, Bjarne B; Vives-Bauza, Cristofol C; Paquis-Flucklinger, Véronique V
Publication Date: 2018-11

Variant appearance in text: CCD: K38A
PubMed Link: 30092269
Variant Present in the following documents:
  • Main text
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c-Abl-mediated Drp1 phosphorylation promotes oxidative stress-induced mitochondrial fragmentation and neuronal cell death.

Cell Death & Disease
Zhou, Lujun L; Zhang, Qiang Q; Zhang, Peng P; Sun, Lei L; Peng, Can C; Yuan, Zengqiang Z; Cheng, Jinbo J
Publication Date: 2017-10-12

Variant appearance in text: CCD: K38A
PubMed Link: 29022905
Variant Present in the following documents:
  • Main text
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Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion.

Protein & Cell
Lee, Crystal A CA; Chin, Lih-Shen LS; Li, Lian L
Publication Date: 2018-08

Variant appearance in text: CCD: K38A
PubMed Link: 28924745
Variant Present in the following documents:
  • Main text
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Constriction of the mitochondrial inner compartment is a priming event for mitochondrial division.

Nature Communications
Cho, Bongki B; Cho, Hyo Min HM; Jo, Youhwa Y; Kim, Hee Dae HD; Song, Myungjae M; Moon, Cheil C; Kim, Hyongbum H; Kim, Kyungjin K; Sesaki, Hiromi H; Rhyu, Im Joo IJ; Kim, Hyun H; Sun, Woong W
Publication Date: 2017-06-09

Variant appearance in text: CCD: K38A
PubMed Link: 28598422
Variant Present in the following documents:
  • Main text
  • ncomms15754.pdf
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Dengue virus induces mitochondrial elongation through impairment of Drp1-triggered mitochondrial fission.

Virology
Barbier, Vincent V; Lang, Diane D; Valois, Sierra S; Rothman, Alan L AL; Medin, Carey L CL
Publication Date: 2017-01

Variant appearance in text: CCD: K38A
PubMed Link: 27816895
Variant Present in the following documents:
  • Main text
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Topology and structure of an engineered human cohesin complex bound to Pds5B.

Nature Communications
Hons, Michael T MT; Huis In 't Veld, Pim J PJ; Kaesler, Jan J; Rombaut, Pascaline P; Schleiffer, Alexander A; Herzog, Franz F; Stark, Holger H; Peters, Jan-Michael JM
Publication Date: 2016-08-23

Variant appearance in text: CCD: K38A
PubMed Link: 27549742
Variant Present in the following documents:
  • Main text
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Early ERK1/2 activation promotes DRP1-dependent mitochondrial fission necessary for cell reprogramming.

Nature Communications
Prieto, Javier J; León, Marian M; Ponsoda, Xavier X; Sendra, Ramón R; Bort, Roque R; Ferrer-Lorente, Raquel R; Raya, Angel A; López-García, Carlos C; Torres, Josema J
Publication Date: 2016-03-31

Variant appearance in text: CCD: K38A
PubMed Link: 27030341
Variant Present in the following documents:
  • Main text
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Actin filaments target the oligomeric maturation of the dynamin GTPase Drp1 to mitochondrial fission sites.

Elife
Ji, Wei-ke WK; Hatch, Anna L AL; Merrill, Ronald A RA; Strack, Stefan S; Higgs, Henry N HN
Publication Date: 2015-11-26

Variant appearance in text: CCD: K38A
PubMed Link: 26609810
Variant Present in the following documents:
  • Main text
  • elife-11553.pdf
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Versatility in phospho-dependent molecular recognition of the XRCC1 and XRCC4 DNA-damage scaffolds by aprataxin-family FHA domains.

Dna Repair
Cherry, Amy L AL; Nott, Timothy J TJ; Kelly, Geoffrey G; Rulten, Stuart L SL; Caldecott, Keith W KW; Smerdon, Stephen J SJ
Publication Date: 2015-11

Variant appearance in text: CCD: K38A
PubMed Link: 26519825
Variant Present in the following documents:
  • Main text
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The mechanoenzymatic core of dynamin-related protein 1 comprises the minimal machinery required for membrane constriction.

The Journal Of Biological Chemistry
Francy, Christopher A CA; Alvarez, Frances J D FJ; Zhou, Louie L; Ramachandran, Rajesh R; Mears, Jason A JA
Publication Date: 2015-05-01

Variant appearance in text: CCD: K38A
PubMed Link: 25770210
Variant Present in the following documents:
  • Main text
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Transient assembly of F-actin on the outer mitochondrial membrane contributes to mitochondrial fission.

The Journal Of Cell Biology
Li, Sunan S; Xu, Shan S; Roelofs, Brian A BA; Boyman, Liron L; Lederer, W Jonathan WJ; Sesaki, Hiromi H; Karbowski, Mariusz M
Publication Date: 2015-01-05

Variant appearance in text: CCD: K38A
PubMed Link: 25547155
Variant Present in the following documents:
  • Main text
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McbR/YncC: implications for the mechanism of ligand and DNA binding by a bacterial GntR transcriptional regulator involved in biofilm formation.

Biochemistry
Lord, Dana M DM; Uzgoren Baran, Ayse A; Soo, Valerie W C VW; Wood, Thomas K TK; Peti, Wolfgang W; Page, Rebecca R
Publication Date: 2014-11-25

Variant appearance in text: CCD: Lys38Ala
PubMed Link: 25376905
Variant Present in the following documents:
  • Main text
  • bi500871a.pdf
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Dynamics of nucleoid structure regulated by mitochondrial fission contributes to cristae reformation and release of cytochrome c.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ban-Ishihara, Reiko R; Ishihara, Takaya T; Sasaki, Narie N; Mihara, Katsuyoshi K; Ishihara, Naotada N
Publication Date: 2013-07-16

Variant appearance in text: CCD: K38A
PubMed Link: 23821750
Variant Present in the following documents:
  • Main text
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OPA1 promotes pH flashes that spread between contiguous mitochondria without matrix protein exchange.

The Embo Journal
Santo-Domingo, Jaime J; Giacomello, Marta M; Poburko, Damon D; Scorrano, Luca L; Demaurex, Nicolas N
Publication Date: 2013-07-03

Variant appearance in text: CCD: K38A
PubMed Link: 23714779
Variant Present in the following documents:
  • Main text
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Functional dissection of the dictyostelium discoideum dynamin B mitochondrial targeting sequence.

Plos One
Rai, Amrita A; Tzvetkov, Nikolay N; Manstein, Dietmar J DJ
Publication Date: 2013

Variant appearance in text: CCD: K38A
PubMed Link: 23437285
Variant Present in the following documents:
  • Main text
  • pone.0056975.pdf
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Purification, crystallization and X-ray diffraction analysis of human dynamin-related protein 1 GTPase-GED fusion protein.

Acta Crystallographica. Section F, Structural Biology And Crystallization Communications
Klinglmayr, Eva E; Wenger, Julia J; Mayr, Sandra S; Bossy-Wetzel, Ella E; Puehringer, Sandra S
Publication Date: 2012-10-01

Variant appearance in text: CCD: K38A
PubMed Link: 23027751
Variant Present in the following documents:
  • Main text
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Stress-induced phosphorylation and proteasomal degradation of mitofusin 2 facilitates mitochondrial fragmentation and apoptosis.

Molecular Cell
Leboucher, Guillaume P GP; Tsai, Yien Che YC; Yang, Mei M; Shaw, Kristin C KC; Zhou, Ming M; Veenstra, Timothy D TD; Glickman, Michael H MH; Weissman, Allan M AM
Publication Date: 2012-08-24

Variant appearance in text: CCD: K38A
PubMed Link: 22748923
Variant Present in the following documents:
  • Main text
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Mutant A53T alpha-synuclein induces neuronal death by increasing mitochondrial autophagy.

The Journal Of Biological Chemistry
Choubey, Vinay V; Safiulina, Dzhamilja D; Vaarmann, Annika A; Cagalinec, Michal M; Wareski, Przemyslaw P; Kuum, Malle M; Zharkovsky, Alexander A; Kaasik, Allen A
Publication Date: 2011-03-25

Variant appearance in text: CCD: K38A
PubMed Link: 21252228
Variant Present in the following documents:
  • Main text
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ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.

The Journal Of Biological Chemistry
Darshi, Manjula M; Mendiola, Vincent L VL; Mackey, Mason R MR; Murphy, Anne N AN; Koller, Antonius A; Perkins, Guy A GA; Ellisman, Mark H MH; Taylor, Susan S SS
Publication Date: 2011-01-28

Variant appearance in text: CCD: K38A
PubMed Link: 21081504
Variant Present in the following documents:
  • Main text
  • zbc2918.pdf
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Nitric oxide inhibition of Drp1-mediated mitochondrial fission is critical for myogenic differentiation.

Cell Death And Differentiation
De Palma, C C; Falcone, S S; Pisoni, S S; Cipolat, S S; Panzeri, C C; Pambianco, S S; Pisconti, A A; Allevi, R R; Bassi, M T MT; Cossu, G G; Pozzan, T T; Moncada, S S; Scorrano, L L; Brunelli, S S; Clementi, E E
Publication Date: 2010-11

Variant appearance in text: CCD: K38A
PubMed Link: 20467441
Variant Present in the following documents:
  • Main text
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BH3 peptides induce mitochondrial fission and cell death independent of BAX/BAK.

Plos One
Shroff, Emelyn H EH; Snyder, Colleen M CM; Budinger, G R Scott GR; Jain, Manu M; Chew, Teng-Leong TL; Khuon, Satya S; Perlman, Harris H; Chandel, Navdeep S NS
Publication Date: 2009-05-21

Variant appearance in text: CCD: K38A
PubMed Link: 19468307
Variant Present in the following documents:
  • Main text
  • pone.0005646.pdf
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Drp1 levels constitutively regulate mitochondrial dynamics and cell survival in cortical neurons.

Experimental Neurology
Uo, Takuma T; Dworzak, Jenny J; Kinoshita, Chizuru C; Inman, Denise M DM; Kinoshita, Yoshito Y; Horner, Philip J PJ; Morrison, Richard S RS
Publication Date: 2009-08

Variant appearance in text: CCD: K38A
PubMed Link: 19445933
Variant Present in the following documents:
  • Main text
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Dephosphorylation by calcineurin regulates translocation of Drp1 to mitochondria.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Cereghetti, G M GM; Stangherlin, A A; Martins de Brito, O O; Chang, C R CR; Blackstone, C C; Bernardi, P P; Scorrano, L L
Publication Date: 2008-10-14

Variant appearance in text: CCD: K38A
PubMed Link: 18838687
Variant Present in the following documents:
  • Main text
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Negative regulation of calcineurin signaling by Hrr25p, a yeast homolog of casein kinase I.

Genes & Development
Kafadar, Kimberly A KA; Zhu, Heng H; Snyder, Michael M; Cyert, Martha S MS
Publication Date: 2003-11-01

Variant appearance in text: CCD: K38A
PubMed Link: 14597664
Variant Present in the following documents:
  • Main text
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