The tubulin code, from molecules to health and disease
ED McKenna, SL Sarbanes… - Annual Review of …, 2023 - annualreviews.org
Microtubules are essential dynamic polymers composed of α/β-tubulin heterodimers. They
support intracellular trafficking, cell division, cellular motility, and other essential cellular …
support intracellular trafficking, cell division, cellular motility, and other essential cellular …
Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms
MS Van der Knaap, M Bugiani - Acta neuropathologica, 2017 - Springer
Leukodystrophies are genetically determined disorders characterized by the selective
involvement of the central nervous system white matter. Onset may be at any age, from …
involvement of the central nervous system white matter. Onset may be at any age, from …
[HTML][HTML] Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with …
KD Farwell, L Shahmirzadi, D El-Khechen, Z Powis… - Genetics in …, 2015 - Elsevier
Purpose Diagnostic exome sequencing was immediately successful in diagnosing patients
in whom traditional technologies were uninformative. Herein, we provide the results from the …
in whom traditional technologies were uninformative. Herein, we provide the results from the …
Hypomyelinating leukodystrophies—Unravelling myelin biology
NI Wolf, C Ffrench-Constant… - Nature Reviews …, 2021 - nature.com
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders
characterized by a primary lack of myelin deposition. Most patients with severe …
characterized by a primary lack of myelin deposition. Most patients with severe …
Microtubule dysfunction: a common feature of neurodegenerative diseases
A Sferra, F Nicita, E Bertini - International journal of molecular sciences, 2020 - mdpi.com
Neurons are particularly susceptible to microtubule (MT) defects and deregulation of the MT
cytoskeleton is considered to be a common insult during the pathogenesis of …
cytoskeleton is considered to be a common insult during the pathogenesis of …
NGS technologies as a turning point in rare disease research, diagnosis and treatment
A Fernandez-Marmiesse, S Gouveia… - Current medicinal …, 2018 - ingentaconnect.com
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …
population have a rare disease. Rare diseases are thus a common problem for clinicians …
Neurodegeneration and microtubule dynamics: death by a thousand cuts
J Dubey, N Ratnakaran, SP Koushika - Frontiers in cellular …, 2015 - frontiersin.org
Microtubules form important cytoskeletal structures that play a role in establishing and
maintaining neuronal polarity, regulating neuronal morphology, transporting cargo, and …
maintaining neuronal polarity, regulating neuronal morphology, transporting cargo, and …
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
NI Wolf, A Vanderver, RML Van Spaendonk… - Neurology, 2014 - AAN Enterprises
Objective: To study the clinical and radiologic spectrum and genotype–phenotype
correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) …
correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) …
The CNS myelin proteome: deep profile and persistence after post-mortem delay
Myelin membranes are dominated by lipids while the complexity of their protein composition
has long been considered to be low. However, numerous additional myelin proteins have …
has long been considered to be low. However, numerous additional myelin proteins have …
[HTML][HTML] Next generation sequencing and the future of genetic diagnosis
The introduction of next generation sequencing (NGS) has led to an exponential increase of
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …