Page last updated: 2024-09-27
Laminopathies
Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type.
Synonyms(3)
Synonym |
LMNA-Associated Diseases |
Laminopathies |
LMNA-Linked Diseases |
Research Excerpts
Overview
Research
Studies (4)
Timeframe | Studies, This Condition (%) | All Conditions % |
pre-1990 | 0 (0.00) | 23.3326 |
1990's | 0 (0.00) | 12.5806 |
2000's | 0 (0.00) | 18.1394 |
2010's | 2 (50.00) | 28.8240 |
2020's | 2 (50.00) | 9.53 |
Protein Targets (71)
Protein | Potency Measurements | Inhibition Measurements | Activation Measurements | Drugs |
Chain A, ELONGATION FACTOR TU (EF-TU) | 0 | 0 | 1 | 1 |
Chain A, Elongation Factor G | 0 | 0 | 1 | 1 |
Chain A, ADP-RIBOSYLATION FACTOR-LIKE PROTEIN 3 | 0 | 0 | 1 | 1 |
Chain A, Eukaryotic peptide chain release factor GTP-binding subunit | 0 | 0 | 1 | 1 |
Chain A, ras-related C3 botulinum toxin substrate 1 isoform Rac1b | 0 | 0 | 1 | 1 |
Chain A, ras-related C3 botulinum toxin substrate 1 isoform Rac1b | 0 | 0 | 1 | 1 |
Chain A, interferon-inducible GTPase | 0 | 0 | 1 | 1 |
Chain A, interferon-inducible GTPase | 0 | 0 | 1 | 1 |
Chain A, Elongation factor 2 | 0 | 0 | 1 | 1 |
Chain A, Guanine nucleotide-binding protein G(i), alpha-1 subunit | 0 | 0 | 1 | 1 |
aldehyde dehydrogenase 1 family, member A1 | 1 | 0 | 0 | 1 |
regulator of G-protein signaling 4 | 1 | 0 | 0 | 1 |
survival motor neuron protein isoform d | 1 | 0 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit pi | 0 | 1 | 0 | 1 |
72 kDa type IV collagenase | 0 | 1 | 0 | 1 |
Matrilysin | 0 | 1 | 0 | 1 |
2-dehydropantoate 2-reductase | 0 | 0 | 2 | 2 |
Gamma-aminobutyric acid receptor subunit beta-1 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit delta | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit gamma-2 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit alpha-5 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit alpha-3 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit gamma-1 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit alpha-2 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit alpha-4 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit gamma-3 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit alpha-6 | 0 | 1 | 0 | 1 |
Ras-related protein Rab-7a | 0 | 0 | 2 | 2 |
4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit alpha-1 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit beta-3 | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit beta-2 | 0 | 1 | 0 | 1 |
Disintegrin and metalloproteinase domain-containing protein 17 | 0 | 1 | 0 | 1 |
4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5 | 0 | 1 | 0 | 1 |
Alpha-(1,3)-fucosyltransferase 7 | 0 | 1 | 0 | 1 |
CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 | 0 | 1 | 0 | 1 |
P2Y purinoceptor 6 | 0 | 0 | 1 | 1 |
GABA theta subunit | 0 | 1 | 0 | 1 |
Gamma-aminobutyric acid receptor subunit epsilon | 0 | 1 | 0 | 1 |
4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 | 0 | 4 | 0 | 4 |
Chain A, Uracil Phosphoribosyltransferase | 0 | 0 | 1 | 1 |
Chain B, Uracil Phosphoribosyltransferase | 0 | 0 | 1 | 1 |
Chain C, Uracil Phosphoribosyltransferase | 0 | 0 | 1 | 1 |
phosphopantetheinyl transferase | 1 | 0 | 0 | 1 |
TDP1 protein | 1 | 0 | 0 | 1 |
67.9K protein | 1 | 0 | 0 | 1 |
Chain A, Protein farnesyltransferase alpha subunit | 0 | 1 | 0 | 1 |
Chain B, Protein farnesyltransferase beta subunit | 0 | 1 | 0 | 1 |
Fumarate hydratase | 1 | 0 | 0 | 1 |
PPM1D protein | 1 | 0 | 0 | 1 |
EWS/FLI fusion protein | 1 | 0 | 0 | 1 |
polyprotein | 1 | 0 | 0 | 1 |
GTPase HRas | 0 | 1 | 0 | 1 |
Interferon beta | 1 | 0 | 0 | 1 |
ATP-dependent translocase ABCB1 | 0 | 1 | 0 | 1 |
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha | 0 | 1 | 0 | 1 |
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha | 0 | 1 | 0 | 1 |
Protein farnesyltransferase subunit beta | 0 | 1 | 0 | 1 |
Protein farnesyltransferase subunit beta | 0 | 1 | 0 | 1 |
Geranylgeranyl transferase type-1 subunit beta | 0 | 1 | 0 | 1 |
Geranylgeranyl transferase type-1 subunit beta | 0 | 1 | 0 | 1 |
Protein farnesyltransferase subunit beta | 0 | 1 | 0 | 1 |
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha | 0 | 1 | 0 | 1 |
Geranylgeranyl transferase type-1 subunit beta | 0 | 1 | 0 | 1 |
Protein farnesyltransferase alpha subunit | 0 | 1 | 0 | 1 |
CAAX farnesyltransferase subunit beta | 0 | 1 | 0 | 1 |
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha | 0 | 0 | 1 | 1 |
Protein farnesyltransferase subunit beta | 0 | 0 | 1 | 1 |
Chain B, Exotoxin A | 0 | 0 | 1 | 1 |
Chain B, Exotoxin A | 0 | 0 | 1 | 1 |
Chain B, Exotoxin A | 0 | 0 | 1 | 1 |
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023] |