TABLE 1.
List of antibodies targeting the NMD genes studied by Immunofluorescence (IF) and Western blot (WB).
| Gene | Human Disease | OMIM | Primary antibody | Specie | Catalogue# | Dilution |
| COL6A1 | − Bethlem myopathy − Ullrich congenital muscular dystrophy |
# 158810 # 254090 |
(a) COL6A1 (b) Col6A1-A3 (c) Collagen VI (d) Collagen VI |
(a) Rabbit polyclonal (b) Rabbit polyclonal (c) Rabbit polyclonal (d) Mouse monoclonal |
(a) sc-20649 (b) 70R-CR009X (c) ab6588 (d) MAB1944 |
(a) 1:1000 (WB) (b) 1:1000 (WB) 1:100 (IF) (c) 1:100 (IF) (d) 1:50 |
| C9orf72 | Amyotrophic lateral sclerosis and/or frontotemporal dementia |
# 105550 | C90rf72 | Mouse IgG2a | GTX634482 | 1:500 |
| SMN1 | Spinal muscular atrophy | # 253300 # 253550 # 253400 # 271150 |
SMN | Mouse IgG1 | 610647 | 1:500 |
| DYNC1H1 | − Charcot-Marie-Tooth disease, axonal, type 20 − Spinal muscular atrophy, lower extremity, autosomal dominant |
# 614228 # 158600 |
DYNC1H1 | Rabbit polyclonal | ABT266 | 1:5000 |
| UBA1 | Spinal muscular atrophy, distal, Xlinked, related to UBA1 |
# 301830 | UBA1 | Rabbit polyclonal | Orb411973 | 1:1000 |
| SOD1 | Amyotrophic lateral sclerosis | # 105400 | SOD1 | Rabbit polyclonal | 10269-1-AP | 1:1000 |
| DAG1 | − Muscular dystrophy-dystroglycanopathy (limb-girdle) − Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 |
# 613818 # 616538 |
αDG IIH6 βDG |
Mouse IgM Mouse IgG2a |
05-593 B-DG-CE |
1:2000 1:100 |
| DYSF | − Miyoshi myopathy − Muscular; dystrophy, limb-girdle, type 2B |
# 254130 # 253601 |
Dysferlin | Mouse IgG1 | NCL-Hamlet | 1:2000 |
| HTT | Huntington Disease | # 143100 | Huntingtin | Rabbit polyclonal | EPR5526 | 1:10000 |
| EMD | Emery-dreifuss muscular dystrophy 1 | # 310300 | Emerin | Mouse IgG1 | ab204987 | 1:1000 |
| LMNA | − Charcot-Marie-Tooth disease, axonal, type 2B1 − Hutchinson-Gilford progeria syndrome − Mandibuloacral dysplasia with type a lipodystrophy − Restrictive dermopathy; lipodystrophy, familial partial, type 2 − Cardiomyopathy, dilated, 1A − Emery-Dreifuss muscular dystrophy , autosomal dominant. |
# 605588 # 176670 # 248370 # 275210 # 151660 # 115200 # 181350 |
Lamin A/C | Rabbit monoclonal | ab108595 | 1:10000 |
# phenotype description, molecular basis known.