PC c.112_113delinsGC ;(p.K38A)

Variant ID: 11-66639518-TT-GC

NM_001040716.1(PC):c.112_113delinsGC;(p.K38A)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Hepatocyte Mitochondrial Dynamics and Bioenergetics in Obesity-Related Non-Alcoholic Fatty Liver Disease.

Current Obesity Reports
Legaki, Aigli-Ioanna AI; Moustakas, Ioannis I II; Sikorska, Michalina M; Papadopoulos, Grigorios G; Velliou, Rallia-Iliana RI; Chatzigeorgiou, Antonios A
Publication Date: 2022-09

Variant appearance in text: PC: K38A
PubMed Link: 35501558
Variant Present in the following documents:
  • 13679_2022_Article_473.pdf
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DRP1 interacts directly with BAX to induce its activation and apoptosis.

The Embo Journal
Jenner, Andreas A; Peña-Blanco, Aida A; Salvador-Gallego, Raquel R; Ugarte-Uribe, Begoña B; Zollo, Cristiana C; Ganief, Tariq T; Bierlmeier, Jan J; Mund, Markus M; Lee, Jason E JE; Ries, Jonas J; Schwarzer, Dirk D; Macek, Boris B; Garcia-Saez, Ana J AJ
Publication Date: 2022-04-19

Variant appearance in text: PC: K38A
PubMed Link: 35023587
Variant Present in the following documents:
  • Main text
  • EMBJ-41-e108587.pdf
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Forebrain Shh overexpression improves cognitive function and locomotor hyperactivity in an aneuploid mouse model of Down syndrome and its euploid littermates.

Acta Neuropathologica Communications
Gao, Feng J FJ; Klinedinst, Donna D; Fernandez, Fabian-Xosé FX; Cheng, Bei B; Savonenko, Alena A; Devenney, Benjamin B; Li, Yicong Y; Wu, Dan D; Pomper, Martin G MG; Reeves, Roger H RH
Publication Date: 2021-08-16

Variant appearance in text: PC: K38A
PubMed Link: 34399854
Variant Present in the following documents:
  • 40478_2021_Article_1237.pdf
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The breast cancer oncogene IKKε coordinates mitochondrial function and serine metabolism.

Embo Reports
Xu, Ruoyan R; Jones, William W; Wilcz-Villega, Ewa E; Costa, Ana Sh AS; Rajeeve, Vinothini V; Bentham, Robert B RB; Bryson, Kevin K; Nagano, Ai A; Yaman, Busra B; Olendo Barasa, Sheila S; Wang, Yewei Y; Chelala, Claude C; Cutillas, Pedro P; Szabadkai, Gyorgy G; Frezza, Christian C; Bianchi, Katiuscia K
Publication Date: 2020-09-03

Variant appearance in text: PC: K38A
PubMed Link: 32783398
Variant Present in the following documents:
  • Main text
  • EMBR-21-e48260.pdf
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Neurotrophins induce fission of mitochondria along embryonic sensory axons.

Elife
Armijo-Weingart, Lorena L; Ketschek, Andrea A; Sainath, Rajiv R; Pacheco, Almudena A; Smith, George M GM; Gallo, Gianluca G
Publication Date: 2019-12-02

Variant appearance in text: PC: K38A
PubMed Link: 31789589
Variant Present in the following documents:
  • Main text
  • elife-49494.pdf
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Mitochondrial stress management: a dynamic journey.

Cell Stress
Valera-Alberni, Miriam M; Canto, Carles C
Publication Date: 2018-10-08

Variant appearance in text: PC: K38A
PubMed Link: 31225450
Variant Present in the following documents:
  • ces-02-253.pdf
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New interfaces on MiD51 for Drp1 recruitment and regulation.

Plos One
Ma, Jun J; Zhai, Yujia Y; Chen, Ming M; Zhang, Kai K; Chen, Quan Q; Pang, Xiaoyun X; Sun, Fei F
Publication Date: 2019

Variant appearance in text: PC: K38A
PubMed Link: 30703167
Variant Present in the following documents:
  • Main text
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New insights into GluT1 mechanics during glucose transfer.

Scientific Reports
Galochkina, Tatiana T; Ng Fuk Chong, Matthieu M; Challali, Lylia L; Abbar, Sonia S; Etchebest, Catherine C
Publication Date: 2019-01-30

Variant appearance in text: PC: K38A
PubMed Link: 30700737
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_37367.pdf
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Dynamin-related protein 1 has membrane constricting and severing abilities sufficient for mitochondrial and peroxisomal fission.

Nature Communications
Kamerkar, Sukrut C SC; Kraus, Felix F; Sharpe, Alice J AJ; Pucadyil, Thomas J TJ; Ryan, Michael T MT
Publication Date: 2018-12-07

Variant appearance in text: PC: K38A
PubMed Link: 30531964
Variant Present in the following documents:
  • 41467_2018_Article_7543.pdf
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Structural determinants of Rab11 activation by the guanine nucleotide exchange factor SH3BP5.

Nature Communications
Jenkins, Meredith L ML; Margaria, Jean Piero JP; Stariha, Jordan T B JTB; Hoffmann, Reece M RM; McPhail, Jacob A JA; Hamelin, David J DJ; Boulanger, Martin J MJ; Hirsch, Emilio E; Burke, John E JE
Publication Date: 2018-09-14

Variant appearance in text: PC: K38A
PubMed Link: 30217979
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_6196.pdf
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Phosphoinositide Binding Inhibits Actin Crosslinking and Polymerization by Palladin.

Journal Of Molecular Biology
Yadav, Rahul R; Vattepu, Ravi R; Beck, Moriah R MR
Publication Date: 2016-10-09

Variant appearance in text: PC: K38A
PubMed Link: 27487483
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Role for Weak Electrostatic Interactions in Peripheral Membrane Protein Binding.

Biophysical Journal
Khan, Hanif M HM; He, Tao T; Fuglebakk, Edvin E; Grauffel, Cédric C; Yang, Boqian B; Roberts, Mary F MF; Gershenson, Anne A; Reuter, Nathalie N
Publication Date: 2016-03-29

Variant appearance in text: PC: K38A
PubMed Link: 27028646
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • mmc1.pdf
  • main.pdf
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Cardiolipin's propensity for phase transition and its reorganization by dynamin-related protein 1 form a basis for mitochondrial membrane fission.

Molecular Biology Of The Cell
Stepanyants, Natalia N; Macdonald, Patrick J PJ; Francy, Christopher A CA; Mears, Jason A JA; Qi, Xin X; Ramachandran, Rajesh R
Publication Date: 2015-09-01

Variant appearance in text: PC: K38A
PubMed Link: 26157169
Variant Present in the following documents:
  • Main text
  • 3104.pdf
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Dynamin-related protein 1 (Drp1) promotes structural intermediates of membrane division.

The Journal Of Biological Chemistry
Ugarte-Uribe, Begoña B; Müller, Hans-Michael HM; Otsuki, Miki M; Nickel, Walter W; García-Sáez, Ana J AJ
Publication Date: 2014-10-31

Variant appearance in text: PC: K38A
PubMed Link: 25237193
Variant Present in the following documents:
  • Main text
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Involvement of dynamin-related protein 1 in free fatty acid-induced INS-1-derived cell apoptosis.

Plos One
Peng, Liang L; Men, Xiuli X; Zhang, Wenjian W; Wang, Haiyan H; Xu, Shiqing S; Fang, Qing Q; Liu, Honglin H; Yang, Wenying W; Lou, Jinning J
Publication Date: 2012

Variant appearance in text: PC: K38A
PubMed Link: 23166623
Variant Present in the following documents:
  • pone.0049258.pdf
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Mutational analysis of the T4 gp59 helicase loader reveals its sites for interaction with helicase, single-stranded binding protein, and DNA.

The Journal Of Biological Chemistry
Dolezal, Darin D; Jones, Charles E CE; Lai, Xiaoqin X; Brister, J Rodney JR; Mueser, Timothy C TC; Nossal, Nancy G NG; Hinton, Deborah M DM
Publication Date: 2012-05-25

Variant appearance in text: PC: K38A
PubMed Link: 22427673
Variant Present in the following documents:
  • Main text
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Genome-wide structural analysis reveals novel membrane binding properties of AP180 N-terminal homology (ANTH) domains.

The Journal Of Biological Chemistry
Silkov, Antonina A; Yoon, Youngdae Y; Lee, Hunjoong H; Gokhale, Nikhil N; Adu-Gyamfi, Emmanuel E; Stahelin, Robert V RV; Cho, Wonhwa W; Murray, Diana D
Publication Date: 2011-09-30

Variant appearance in text: PC: K38A
PubMed Link: 21828048
Variant Present in the following documents:
  • Main text
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Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein.

The Journal Of Biological Chemistry
Nakamura, Ken K; Nemani, Venu M VM; Azarbal, Farnaz F; Skibinski, Gaia G; Levy, Jon M JM; Egami, Kiyoshi K; Munishkina, Larissa L; Zhang, Jue J; Gardner, Brooke B; Wakabayashi, Junko J; Sesaki, Hiromi H; Cheng, Yifan Y; Finkbeiner, Steven S; Nussbaum, Robert L RL; Masliah, Eliezer E; Edwards, Robert H RH
Publication Date: 2011-06-10

Variant appearance in text: PC: K38A
PubMed Link: 21489994
Variant Present in the following documents:
  • Main text
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Membrane remodeling induced by the dynamin-related protein Drp1 stimulates Bax oligomerization.

Cell
Montessuit, Sylvie S; Somasekharan, Syam Prakash SP; Terrones, Oihana O; Lucken-Ardjomande, Safa S; Herzig, Sébastien S; Schwarzenbacher, Robert R; Manstein, Dietmar J DJ; Bossy-Wetzel, Ella E; Basañez, Gorka G; Meda, Paolo P; Martinou, Jean-Claude JC
Publication Date: 2010-09-17

Variant appearance in text: PC: K38A
PubMed Link: 20850011
Variant Present in the following documents:
  • Main text
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Identification and partial characterization of a dynamin-like protein, EhDLP1, from the protist parasite Entamoeba histolytica.

Eukaryotic Cell
Jain, Ruchi R; Shrimal, Shiteshu S; Bhattacharya, Sudha S; Bhattacharya, Alok A
Publication Date: 2010-01

Variant appearance in text: PC: K38A
PubMed Link: 19915078
Variant Present in the following documents:
  • Main text
View BVdb publication page