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] |