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Disease on EC 6.3.2.61 - tubulin-glutamate ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
beta-tubulin-glutamate ligase deficiency
Glutamylation of deubiquitinase BAP1 controls self-renewal of hematopoietic stem cells and hematopoiesis.
Breast Neoplasms
Tubulin Tyrosine Ligase Like 4 (TTLL4) overexpression in breast cancer cells is associated with brain metastasis and alters exosome biogenesis.
Carcinogenesis
Involvement of the Tubulin Tyrosine Ligase-Like Family Member 4 Polyglutamylase in PELP1 Polyglutamylation and Chromatin Remodeling in Pancreatic Cancer Cells.
Carcinoma
Effect of TTLL6 expression on CDDP sensitivity of EC109/CDDP cells in hypoxia/acidosis microenvironment.
Cholera
Impaired mucociliary motility enhances antigen-specific nasal IgA immune responses to a cholera toxin-based nasal vaccine.
Cone Dystrophy
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Cone-Rod Dystrophies
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Hydrocephalus
Tubulin Tyrosine Ligase-Like 1 Deficiency Results in Chronic Rhinosinusitis and Abnormal Development of Spermatid Flagella in Mice.
Infertility
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Infertility, Male
Tubulin Tyrosine Ligase-Like 1 Deficiency Results in Chronic Rhinosinusitis and Abnormal Development of Spermatid Flagella in Mice.
Neoplasm Metastasis
Tubulin Tyrosine Ligase Like 4 (TTLL4) overexpression in breast cancer cells is associated with brain metastasis and alters exosome biogenesis.
Neoplasms
Effect of TTLL6 expression on CDDP sensitivity of EC109/CDDP cells in hypoxia/acidosis microenvironment.
TTLL12 expression in ovarian cancer correlates with a poor outcome.
Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer.
Neuroblastoma
Acquired genetic alterations in tumor cells dictate the development of high-risk neuroblastoma and clinical outcomes.
Otitis Media
Tubulin Tyrosine Ligase-Like 1 Deficiency Results in Chronic Rhinosinusitis and Abnormal Development of Spermatid Flagella in Mice.
Pancreatic Neoplasms
Involvement of the Tubulin Tyrosine Ligase-Like Family Member 4 Polyglutamylase in PELP1 Polyglutamylation and Chromatin Remodeling in Pancreatic Cancer Cells.
Prostatic Neoplasms
Tubulin tyrosine ligase like 12, link to prostate cancer through tubulin post-translational modification and chromosome ploidy.
Retinal Dystrophies
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Scoliosis
Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.
Spastic Paraplegia, Hereditary
Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer Disease and Hereditary Spastic Paraplegia.
Tauopathies
Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer Disease and Hereditary Spastic Paraplegia.
tubulin-glutamate ligase deficiency
Ttll9-/- mice sperm flagella show shortening of doublet 7, reduction of doublet 5 polyglutamylation and a stall in beating.
Tubulin glutamylation regulates ciliary motility by altering inner dynein arm activity.
Tubulin Tyrosine Ligase-Like 1 Deficiency Results in Chronic Rhinosinusitis and Abnormal Development of Spermatid Flagella in Mice.