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

ExcerptReference

Research

Studies (4)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's2 (50.00)28.8240
2020's2 (50.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
lonafarnib0low10
nad0low10
piperidines0low10
muramidase0low10
guanosine diphosphate0low10
guanosine triphosphate0low10

Protein Targets (71)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, ELONGATION FACTOR TU (EF-TU)0011
Chain A, Elongation Factor G0011
Chain A, ADP-RIBOSYLATION FACTOR-LIKE PROTEIN 30011
Chain A, Eukaryotic peptide chain release factor GTP-binding subunit0011
Chain A, ras-related C3 botulinum toxin substrate 1 isoform Rac1b0011
Chain A, ras-related C3 botulinum toxin substrate 1 isoform Rac1b0011
Chain A, interferon-inducible GTPase0011
Chain A, interferon-inducible GTPase0011
Chain A, Elongation factor 20011
Chain A, Guanine nucleotide-binding protein G(i), alpha-1 subunit0011
aldehyde dehydrogenase 1 family, member A11001
regulator of G-protein signaling 41001
survival motor neuron protein isoform d1001
Gamma-aminobutyric acid receptor subunit pi0101
72 kDa type IV collagenase0101
Matrilysin0101
2-dehydropantoate 2-reductase0022
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit delta0101
Gamma-aminobutyric acid receptor subunit gamma-20101
Gamma-aminobutyric acid receptor subunit alpha-50101
Gamma-aminobutyric acid receptor subunit alpha-30101
Gamma-aminobutyric acid receptor subunit gamma-10101
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit gamma-30101
Gamma-aminobutyric acid receptor subunit alpha-60101
Ras-related protein Rab-7a0022
4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT60101
Gamma-aminobutyric acid receptor subunit alpha-10101
Gamma-aminobutyric acid receptor subunit beta-30101
Gamma-aminobutyric acid receptor subunit beta-20101
Disintegrin and metalloproteinase domain-containing protein 170101
4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT50101
Alpha-(1,3)-fucosyltransferase 70101
CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 10101
P2Y purinoceptor 60011
GABA theta subunit0101
Gamma-aminobutyric acid receptor subunit epsilon0101
4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 90404
Chain A, Uracil Phosphoribosyltransferase0011
Chain B, Uracil Phosphoribosyltransferase0011
Chain C, Uracil Phosphoribosyltransferase0011
phosphopantetheinyl transferase1001
TDP1 protein1001
67.9K protein1001
Chain A, Protein farnesyltransferase alpha subunit0101
Chain B, Protein farnesyltransferase beta subunit0101
Fumarate hydratase1001
PPM1D protein1001
EWS/FLI fusion protein1001
polyprotein1001
GTPase HRas0101
Interferon beta1001
ATP-dependent translocase ABCB10101
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha0101
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha0101
Protein farnesyltransferase subunit beta0101
Protein farnesyltransferase subunit beta0101
Geranylgeranyl transferase type-1 subunit beta0101
Geranylgeranyl transferase type-1 subunit beta0101
Protein farnesyltransferase subunit beta0101
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha0101
Geranylgeranyl transferase type-1 subunit beta0101
Protein farnesyltransferase alpha subunit0101
CAAX farnesyltransferase subunit beta 0101
Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha0011
Protein farnesyltransferase subunit beta0011
Chain B, Exotoxin A0011
Chain B, Exotoxin A0011
Chain B, Exotoxin A0011
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]