Journal: American Journal of Human Genetics

Article Title: Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

doi: 10.1016/j.ajhg.2016.08.003

Figure Lengend Snippet: Clinical Features of Subjects with Biallelic TBCD Mutations

Article Snippet: To confirm these findings, the single-nucleotide changes resulting in the p.Thr374Met, p.Arg377Gln, p.Ala626Thr, and p.Pro1122Leu substitutions were introduced by site-directed mutagenesis in a C-terminal Myc-DDK-tagged human TBCD cDNA cloned in pCMV6-Entry vector (RC200381, Origene), and each construct was transiently transfected (Fugene 6, Promega) in HEK293T.

Techniques:

Journal: American Journal of Human Genetics

Article Title: Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

doi: 10.1016/j.ajhg.2016.08.003

Figure Lengend Snippet: List of the Identified TBCD Mutations Causing Early-Onset Encephalopathy

Article Snippet: To confirm these findings, the single-nucleotide changes resulting in the p.Thr374Met, p.Arg377Gln, p.Ala626Thr, and p.Pro1122Leu substitutions were introduced by site-directed mutagenesis in a C-terminal Myc-DDK-tagged human TBCD cDNA cloned in pCMV6-Entry vector (RC200381, Origene), and each construct was transiently transfected (Fugene 6, Promega) in HEK293T.

Techniques:

Journal: American Journal of Human Genetics

Article Title: Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

doi: 10.1016/j.ajhg.2016.08.003

Figure Lengend Snippet: Disease-Causing TBCD Mutations Affect TBCD Stability and Function

Article Snippet: To confirm these findings, the single-nucleotide changes resulting in the p.Thr374Met, p.Arg377Gln, p.Ala626Thr, and p.Pro1122Leu substitutions were introduced by site-directed mutagenesis in a C-terminal Myc-DDK-tagged human TBCD cDNA cloned in pCMV6-Entry vector (RC200381, Origene), and each construct was transiently transfected (Fugene 6, Promega) in HEK293T.

Techniques:

Journal: American Journal of Human Genetics

Article Title: Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

doi: 10.1016/j.ajhg.2016.08.003

Figure Lengend Snippet: Defective TBCD Function Impacts Microtubule Dynamics

Article Snippet: To confirm these findings, the single-nucleotide changes resulting in the p.Thr374Met, p.Arg377Gln, p.Ala626Thr, and p.Pro1122Leu substitutions were introduced by site-directed mutagenesis in a C-terminal Myc-DDK-tagged human TBCD cDNA cloned in pCMV6-Entry vector (RC200381, Origene), and each construct was transiently transfected (Fugene 6, Promega) in HEK293T.

Techniques:

Journal: American Journal of Human Genetics

Article Title: Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

doi: 10.1016/j.ajhg.2016.08.003

Figure Lengend Snippet: Defective TBCD Function Affects the Mitotic Spindle

Article Snippet: To confirm these findings, the single-nucleotide changes resulting in the p.Thr374Met, p.Arg377Gln, p.Ala626Thr, and p.Pro1122Leu substitutions were introduced by site-directed mutagenesis in a C-terminal Myc-DDK-tagged human TBCD cDNA cloned in pCMV6-Entry vector (RC200381, Origene), and each construct was transiently transfected (Fugene 6, Promega) in HEK293T.

Techniques: