Cargando…

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

BACKGROUND: Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 (TTLL5) represent a recently described...

Descripción completa

Detalles Bibliográficos
Autores principales:	Oh, Jin Kyun, Vargas Del Valle, José G., Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R., Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R., Izquierdo, Natalio J., Duncan, Jacque L., Mahajan, Vinit B., Tsang, Stephen H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8973795/ https://www.ncbi.nlm.nih.gov/pubmed/35365235 http://dx.doi.org/10.1186/s13023-022-02295-9

Ejemplares similares

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
por: Smirnov, Vasily, et al.
Publicado: (2021)

TTLL1 and TTLL4 polyglutamylases are required for the neurodegenerative phenotypes in pcd mice
por: Wu, Hui-Yuan, et al.
Publicado: (2022)

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family
por: Dias, Miguel de Sousa, et al.
Publicado: (2017)

Tubulin Polyglutamylation by TTLL1 and TTLL7 Regulate Glutamate Concentration in the Mice Brain
por: Ping, Yashuang, et al.
Publicado: (2023)

The distinct initiation sites and processing activities of TTLL4 and TTLL7 in glutamylation of brain tubulin
por: Zhang, Xinyue, et al.
Publicado: (2023)

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy
por: Collison, Frederick T., et al.
Publicado: (2019)

Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1
por: Ma, Chu Jian, et al.
Publicado: (2019)

Multi-platform imaging in ABCA4-Associated Disease
por: Chen, Lijuan, et al.
Publicado: (2019)

A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes
por: Lee, Winston, et al.
Publicado: (2022)

Insights Into PROM1-Macular Disease Using Multimodal Imaging
por: Paavo, Maarjaliis, et al.
Publicado: (2023)

Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture
por: Su, Pei-Yin, et al.
Publicado: (2022)

Multimodal Imaging in Best Vitelliform Macular Dystrophy
por: Lima de Carvalho, Jose Ronaldo, et al.
Publicado: (2019)

Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders
por: Oh, Jin Kyun, et al.
Publicado: (2020)

Proper cytoskeletal architecture beneath the plasma membrane of red blood cells requires Ttll4
por: Ijaz, Faryal, et al.
Publicado: (2017)

Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium
por: Sparrow, Janet R., et al.
Publicado: (2021)

Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease
por: Parmann, Rait, et al.
Publicado: (2022)

Identification of a novel transcript isoform of the TTLL12 gene in human cancers
por: Wen, Ruiling, et al.
Publicado: (2016)

TTLL12 is required for primary ciliary axoneme formation in polarized epithelial cells
por: Ceglowski, J., et al.
Publicado: (2023)

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation
por: Lee, Winston, et al.
Publicado: (2016)

Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy
por: Jauregui, Ruben, et al.
Publicado: (2020)

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes
por: Zernant, Jana, et al.
Publicado: (2018)

Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence
por: Kolesnikova, Masha, et al.
Publicado: (2022)

Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence
por: Jauregui, Ruben, et al.
Publicado: (2021)

Identification of DmTTLL5 as a Major Tubulin Glutamylase in the Drosophila Nervous System
por: Devambez, Isabelle, et al.
Publicado: (2017)

Double mutants of TTLL glutamylase genes have little to no difference in viability or brood size
por: Shah, Pooja, et al.
Publicado: (2019)

Chromosome segregation fidelity requires microtubule polyglutamylation by the cancer downregulated enzyme TTLL11
por: Zadra, Ivan, et al.
Publicado: (2022)

Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family
por: Mathieu, Hélène, et al.
Publicado: (2021)

Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa
por: Schuerch, Kaspar, et al.
Publicado: (2017)

Effect of TTLL6 expression on CDDP sensitivity of EC109/CDDP cells in hypoxia/acidosis microenvironment
por: Qiu, Yang, et al.
Publicado: (2020)

Effect of TTLL12 on tubulin tyrosine nitration as a novel target for screening anticancer drugs in vitro
por: Xue, Lingli, et al.
Publicado: (2020)

Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
por: Oh, Jin Kyun, et al.
Publicado: (2019)

Tacrolimus induced optic neuropathy in post-lung transplant patients: A series of 3 patients
por: Nanda, Tavish, et al.
Publicado: (2021)

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence
por: Paavo, Maarjaliis, et al.
Publicado: (2018)

Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence
por: Greenstein, Vivienne C., et al.
Publicado: (2023)

A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease
por: Greenstein, Vivienne C., et al.
Publicado: (2017)

Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration
por: Sengillo, Jesse D., et al.
Publicado: (2019)

Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3)
por: Stallworth, Jeannette Y., et al.
Publicado: (2022)

Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
por: Cho, Ahra, et al.
Publicado: (2020)

A conserved flagella-associated protein in Chlamydomonas, FAP234, is essential for axonemal localization of tubulin polyglutamylase TTLL9
por: Kubo, Tomohiro, et al.
Publicado: (2014)

Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction
por: Oh, Jin Kyun, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_ppp739018kdeqhmf0umdrb3138