Research Library

The TBCD Foundation strives to make research about TBCD easily accessible in one place. We don't own this content, we've just compiled links that will take you to the content source. We're working on finding everything, but if you find (or wrote!) an article we missed, please contact us with a link so we can include it here.

This picture shows the tubulin folding pathway and the involvement of several cofactors. The microtubules depolymerization depends on GTP hydrolysis and the correct interaction with the cofactors. TBCA and TBCB are described exclusively in 1 pathway, whereas TBCC, TBCD, and TBCE build the super complex to hydrolyze GTP and facilitate the release of the native tubulins.
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing
Child Neurology Open / / / Christina M Quitmann , Stephan Rust , Janine Reunert , Saskia Biskup , Barbara Fiedler , Thorsten Marquardt

Brain
Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature
Neuropediatrics / Children's Hospital of Fudan University, Shanghai, China / / Yunjian Zhang, Linmei Zhang, Shuizhen Zhou

TBCD proteins
Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy
Children Basel / National Taiwan University Hospital / / Chih-Ling Chen, Chien-Nan Lee , Yin-Hsiu Chien, Wuh-Liang Hwu, Tung-Ming Chang, Ni-Chung Lee

Hunan, China
Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features
Neurological Sciences / Maternal and Child Health Hospital of Hunan province / / Di Tian, Khan Rizwan, Yi Liu, Lulu Kang, Yanlin Yang, Xiao Mao, Li Shu

Tel Aviv
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy
Clinical Genetics / The Institute for Rare Diseases, Tel Aviv / / Ben Pode-Shakked

Kids with TBCD with MRIs
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
American Society of Human Genetics / American Society of Human Genetics / / Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret G Au, Alessandro Capuano, Emanuela Piermarini, Anna A Ivanova, Joshua W Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A Haaxma, Andrea Ciolfi , Simone Pizzi

MRIs
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy
American Journal of Human Genetics / American Society of Human Genetics / / Noriko Miyake, Ryoko Fukai, Chihiro Ohba, Takahiro Chihara, Masayuki Miura, Hiroshi Shimizu, Akiyoshi Kakita, Eri Imagawa, Masaaki Shiina, Kazuhiro Ogata, Jiu Okuno-Yuguchi, Noboru Fueki, Yoshifumi Ogiso, Hiroshi Suzumura, Yoshiyuki Watabe

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Did you Know?
The TBCD gene was only recently discovered. It is suspected that there are many undiagnosed individuals with TBCD Disorder. TBCD Disorder is also sometimes referred to as PEBAT.
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