Envelope proteins and their potential roles in EDMD physiopathology (WP4535)

Homo sapiens

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Schematic model of the nuclear envelope proteins and their potential roles in EDMD physiopathology.

Authors

Laurent Winckers , Marvin Martens , Alex Pico , Friederike Ehrhart , and Eric Weitz

Activity

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

Emery-Dreifuss muscular dystrophy

Participants
Query Drugst.One

Label Type Compact URI Comment
ADCY1 GeneProduct ncbigene:107 A/C
ADCY2 GeneProduct ncbigene:108 A/C
ADCY3 GeneProduct ncbigene:109 A/C
ADCY4 GeneProduct ncbigene:196883 A/C
ADCY5 GeneProduct ncbigene:111 A/C
ADCY6 GeneProduct ncbigene:112 A/C
ADCY7 GeneProduct ncbigene:113 A/C
ADCY8 GeneProduct ncbigene:114 A/C
ADCY9 GeneProduct ncbigene:115 A/C
SYNE1 GeneProduct ncbigene:23345 nesprin1/2
TGFB1 GeneProduct ncbigene:7040 TGF-B
TGFB2 GeneProduct ncbigene:7042 TGF-B
TAZ GeneProduct ncbigene:6901 YAP/TAZ
YY1AP1 GeneProduct ncbigene:55249 YAP/TAZ
TMPO GeneProduct ncbigene:7112
SYNE4 GeneProduct ncbigene:163183 nesprin4
PLEC GeneProduct ncbigene:5339
MAP2K2 GeneProduct ncbigene:5605 MEK
Smad3 GeneProduct ncbigene:4088
Cofilin-1 GeneProduct ncbigene:1072
SYNE3 GeneProduct ncbigene:161176 nesprin3
HRAS GeneProduct ncbigene:3265 Ras
SOS2 GeneProduct ncbigene:6655
Grb2 GeneProduct ncbigene:2885
SUN GeneProduct ncbigene:23353
NRAS GeneProduct ncbigene:4893 Ras
MAP2K1 GeneProduct ncbigene:5604 MEK
Smad2 GeneProduct ncbigene:4087
MAPK1 GeneProduct ncbigene:5594 ERK
EMD GeneProduct ncbigene:2010
CTGF GeneProduct ncbigene:1490 CTGF/CCN2
BANF1 GeneProduct ncbigene:8815 BAF
MAPK3 GeneProduct ncbigene:5595 ERK
SYNE2 GeneProduct ncbigene:23224 nesprin1/2
Smad4 GeneProduct ncbigene:4089
TMEM43 GeneProduct ncbigene:79188 LUMA
ADCY10 GeneProduct ncbigene:55811 A/C
MAP3K9 GeneProduct ncbigene:4293 MLK1
LEMD3 GeneProduct ncbigene:23592 MAN-1
SRF GeneProduct ncbigene:6722 SRF
KIF5B GeneProduct ncbigene:3799 Kif5B
KRAS GeneProduct ncbigene:3845 Ras
SOS1 GeneProduct ncbigene:6654
LBR GeneProduct ncbigene:3930 LBR
RhoA GeneProduct ncbigene:387
TGFB3 GeneProduct ncbigene:7043 TGF-B

References

  1. The Pathogenesis and Therapies of Striated Muscle Laminopathies. Brull A, Morales Rodriguez B, Bonne G, Muchir A, Bertrand AT. Front Physiol. 2018 Oct 30;9:1533. PubMed Europe PMC Scholia