RET c.278G>C ;(p.G93A)

Variant ID: 10-43596111-G-C

NM_020975.4(RET):c.278G>C;(p.G93A)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


BDNF-dependent modulation of axonal transport is selectively impaired in ALS.

Acta Neuropathologica Communications
Tosolini, Andrew P AP; Sleigh, James N JN; Surana, Sunaina S; Rhymes, Elena R ER; Cahalan, Stephen D SD; Schiavo, Giampietro G
Publication Date: 2022-08-22

Variant appearance in text: RET: G93A
PubMed Link: 35996201
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1418.pdf
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Bimodal regulation of axonal transport by the GDNF-RET signalling axis in healthy and diseased motor neurons.

Cell Death & Disease
Rhymes, Elena R ER; Tosolini, Andrew P AP; Fellows, Alexander D AD; Mahy, William W; McDonald, Neil Q NQ; Schiavo, Giampietro G
Publication Date: 2022-07-07

Variant appearance in text: RET: G93A
PubMed Link: 35798698
Variant Present in the following documents:
  • Main text
  • 41419_2022_Article_5031.pdf
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Edaravone activates the GDNF/RET neurotrophic signaling pathway and protects mRNA-induced motor neurons from iPS cells.

Molecular Neurodegeneration
Li, Qian Q; Feng, Yi Y; Xue, Yingchao Y; Zhan, Xiping X; Fu, Yi Y; Gui, Gege G; Zhou, Weiqiang W; Richard, Jean-Philippe JP; Taga, Arens A; Li, Pan P; Mao, Xiaobo X; Maragakis, Nicholas J NJ; Ying, Mingyao M
Publication Date: 2022-01-10

Variant appearance in text: RET: G93A
PubMed Link: 35012575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Edaravone activates the GDNF/RET neurotrophic signaling pathway and protects mRNA-induced motor neurons from iPS cells.

Molecular Neurodegeneration
Li, Qian Q; Feng, Yi Y; Xue, Yingchao Y; Zhan, Xiping X; Fu, Yi Y; Gui, Gege G; Zhou, Weiqiang W; Richard, Jean-Philippe JP; Taga, Arens A; Li, Pan P; Mao, Xiaobo X; Maragakis, Nicholas J NJ; Ying, Mingyao M
Publication Date: 2022-01-10

Variant appearance in text: RET: G93A
PubMed Link: 35012575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanistic Insight from Preclinical Models of Parkinson's Disease Could Help Redirect Clinical Trial Efforts in GDNF Therapy.

International Journal Of Molecular Sciences
Delgado-Minjares, Karen M KM; Martinez-Fong, Daniel D; Martínez-Dávila, Irma A IA; Bañuelos, Cecilia C; Gutierrez-Castillo, M E ME; Blanco-Alvarez, Víctor Manuel VM; Cardenas-Aguayo, Maria-Del-Carmen MD; Luna-Muñoz, José J; Pacheco-Herrero, Mar M; Soto-Rojas, Luis O LO
Publication Date: 2021-10-28

Variant appearance in text: RET: G93A
PubMed Link: 34769132
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence-Based Research Strategy of Traditional Chinese Medicine for Amyotrophic Lateral Sclerosis.

Evidence-Based Complementary And Alternative Medicine : Ecam
Pan, Hao H; Wang, Heng H; Tao, Yanlin Y; Yuan, Jinfeng J; Xu, Sanbin S; Ni, Jianli J; Huang, Meiqin M; Wu, Xiaojun X; Liu, Te T
Publication Date: 2021

Variant appearance in text: RET: G93A
PubMed Link: 34512775
Variant Present in the following documents:
  • Main text
View BVdb publication page



GDNF to the rescue: GDNF delivery effects on motor neurons and nerves, and muscle re-innervation after peripheral nerve injuries.

Neural Regeneration Research
Cintron-Colon, Alberto F AF; Almeida-Alves, Gabriel G; VanGyseghem, Juliana M JM; Spitsbergen, John M JM
Publication Date: 2022-04

Variant appearance in text: RET: G93A
PubMed Link: 34472460
Variant Present in the following documents:
  • NRR-17-748.pdf
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Therapeutic Potential of AAV1-Rheb(S16H) Transduction against Neurodegenerative Diseases.

International Journal Of Molecular Sciences
Nam, Youngpyo Y; Moon, Gyeong Joon GJ; Kim, Sang Ryong SR
Publication Date: 2021-03-17

Variant appearance in text: RET: G93A
PubMed Link: 33802760
Variant Present in the following documents:
  • Main text
  • ijms-22-03064.pdf
View BVdb publication page



NURR1 Alterations in Perinatal Stress: A First Step towards Late-Onset Diseases? A Narrative Review.

Biomedicines
Bordoni, Laura L; Petracci, Irene I; Calleja-Agius, Jean J; Lalor, Joan G JG; Gabbianelli, Rosita R
Publication Date: 2020-12-08

Variant appearance in text: RET: G93A
PubMed Link: 33302583
Variant Present in the following documents:
  • Main text
  • biomedicines-08-00584.pdf
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Small Molecules and Peptides Targeting Glial Cell Line-Derived Neurotrophic Factor Receptors for the Treatment of Neurodegeneration.

International Journal Of Molecular Sciences
Sidorova, Yulia A YA; Saarma, Mart M
Publication Date: 2020-09-08

Variant appearance in text: RET: G93A
PubMed Link: 32911810
Variant Present in the following documents:
  • ijms-21-06575.pdf
View BVdb publication page



GDNF synthesis, signaling, and retrograde transport in motor neurons.

Cell And Tissue Research
Cintrón-Colón, Alberto F AF; Almeida-Alves, Gabriel G; Boynton, Alicia M AM; Spitsbergen, John M JM
Publication Date: 2020-10

Variant appearance in text: RET: G93A
PubMed Link: 32897420
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuroprotection: Pro-survival and Anti-neurotoxic Mechanisms as Therapeutic Strategies in Neurodegeneration.

Frontiers In Cellular Neuroscience
Saragovi, Horacio Uri HU; Galan, Alba A; Levin, Leonard A LA
Publication Date: 2019

Variant appearance in text: RET: G93A
PubMed Link: 31244606
Variant Present in the following documents:
  • fncel-13-00231.pdf
View BVdb publication page



Mitochondrial Targeting in Neurodegeneration: A Heme Perspective.

Pharmaceuticals (Basel, Switzerland)
Fiorito, Veronica V; Chiabrando, Deborah D; Tolosano, Emanuela E
Publication Date: 2018-09-18

Variant appearance in text: RET: G93A
PubMed Link: 30231533
Variant Present in the following documents:
  • pharmaceuticals-11-00087.pdf
View BVdb publication page



Inhibiting p38 MAPK alpha rescues axonal retrograde transport defects in a mouse model of ALS.

Cell Death & Disease
Gibbs, Katherine L KL; Kalmar, Bernadett B; Rhymes, Elena R ER; Fellows, Alexander D AD; Ahmed, Mahmood M; Whiting, Paul P; Davies, Ceri H CH; Greensmith, Linda L; Schiavo, Giampietro G
Publication Date: 2018-05-22

Variant appearance in text: RET: G93A
PubMed Link: 29789529
Variant Present in the following documents:
  • 41419_2018_624_MOESM1_ESM.pdf
View BVdb publication page



Systemic injection of AAV9-GDNF provides modest functional improvements in the SOD1G93A ALS rat but has adverse side effects.

Gene Therapy
Thomsen, G M GM; Alkaslasi, M M; Vit, J-P JP; Lawless, G G; Godoy, M M; Gowing, G G; Shelest, O O; Svendsen, C N CN
Publication Date: 2017-04

Variant appearance in text: RET: G93A
PubMed Link: 28276446
Variant Present in the following documents:
  • gt20179a.pdf
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Collapsin Response Mediator Protein-2 (CRMP2) is a Plausible Etiological Factor and Potential Therapeutic Target in Alzheimer's Disease: Comparison and Contrast with Microtubule-Associated Protein Tau.

Journal Of Alzheimer'S Disease : Jad
Hensley, Kenneth K; Kursula, Petri P
Publication Date: 2016-04-15

Variant appearance in text: RET: G93A
PubMed Link: 27079722
Variant Present in the following documents:
  • Main text
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The recent understanding of the neurotrophin's role in skeletal muscle adaptation.

Journal Of Biomedicine & Biotechnology
Sakuma, Kunihiro K; Yamaguchi, Akihiko A
Publication Date: 2011

Variant appearance in text: RET: G93A
PubMed Link: 21960735
Variant Present in the following documents:
  • Main text
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Differential expression of c-Ret in motor neurons versus non-neuronal cells is linked to the pathogenesis of ALS.

Laboratory Investigation; A Journal Of Technical Methods And Pathology
Ryu, Hoon H; Jeon, Gye Sun GS; Cashman, Neil R NR; Kowall, Neil W NW; Lee, Junghee J
Publication Date: 2011-03

Variant appearance in text: RET: G93A
PubMed Link: 21283077
Variant Present in the following documents:
  • nihms248958.pdf
View BVdb publication page