- PA5-21294 - Invitrogen Antibodies EML1 antibody

Submitted references A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.

Markus F, Kannengießer A, Näder P, Atigbire P, Scholten A, Vössing C, Bültmann E, Korenke GC, Owczarek-Lipska M, Neidhardt J
Journal of human genetics 2021 Dec;66(12):1159-1167

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Supportive validation

Submitted by: Invitrogen Antibodies (provider)
Main image
Experimental details: Western Blot using EML1 Polyclonal Antibody (Product # PA5-21294). Sample (30 µg of whole cell lysate). Lane A: H1299 . 7.5% SDS PAGE. EML1 antibody . EML1 Polyclonal Antibody (Product # PA5-21294) diluted at 1:500.

Supportive validation

Submitted by: Invitrogen Antibodies (provider)
Main image
Experimental details: Western Blot using EML1 Polyclonal Antibody (Product # PA5-21294). Sample (30 µg of whole cell lysate). A: NIH-3T3. 7.5% SDS PAGE. EML1 Polyclonal Antibody (Product # PA5-21294) diluted at 1:1,000.

Supportive validation

Submitted by: Invitrogen Antibodies (provider)
Main image
Experimental details: Immunocytochemistry-Immunofluorescence analysis of EML1 was performed in HeLa cells fixed in 4% paraformaldehyde at RT for 15 min. Green: EML1 Polyclonal Antibody (Product # PA5-21294) diluted at 1:200. Red: alpha Tubulin, a cytoskeleton marker. Blue: Hoechst 33342 staining.

Supportive validation

Submitted by: Invitrogen Antibodies (provider)
Main image
Experimental details: Fig. 3 Immunocytochemical detection of EML1 in patient-derived fibroblasts and measurements of primary cilia length. A Immunocytochemical detection of EML1 in skin fibroblasts derived from the RSH-affected patient (P) and controls (C1; C2 similar results, data not shown) was performed with antibodies against EML1 (green, PA5-21294,), alpha-tubulin (magenta, T9026), and DAPI (blue) in four independent replicates. The scale bar corresponds to 20 um. B Cilia axonemes and basal bodies were stained (in patient-derived and control fibroblasts) using acetylated D-tubulin (magenta) and y-tubulin (green), respectively. A scale bar corresponds to 3 um. C Cilia lengths were measured in skin fibroblast from the RSH-affected patient (P) and control cell lines (C1, C2) by measuring the length of D-tubulin signals. At least 240 cilia were measured per cell line. We found no significant difference ( p > 0.05) in the cilia length between the controls, while a highly significant reduction of cilia length ( p

Supportive validation

Submitted by: Invitrogen Antibodies (provider)
Main image
Experimental details: Fig. 4 Western blot and co-immune precipitation analyses of the EML1 protein. A WB analyses of EML1 protein isolated from fibroblasts derived from the RSH-affected patient (P) and unrelated controls (C1, C2; independent replicates: 3). GAPDH served as a loading control. B Overexpression of wild-type EML1 231Gly and mutated EML1 231Asp in HEK-293T. A mock control (empty vector), a control for transfection reagent (PEI), and wild-type protein form HEK-293T cells were used as controls. Using whole-cell lysate EML1 protein was precipitated by EML1 antibody (PA5-21294) and WB analyses were performed with EML1 (sc-390841) and alpha-tubulin (T9026) antibodies. P--RSH-affected patient, C1-2--control 1-2, HEK WT--HEK wild type, Mock--empty vector, PEI--polyethylenimine (transfection reagent), EML1 231Gly --overexpressed EML1 reference protein, EML1 231Asp --overexpressed EML1 mutated protein, kDa--kilo Dalton

PA5-21294

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