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 …

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 …

[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 …

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 …

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 …

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 …

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 …

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) …

The CNS myelin proteome: deep profile and persistence after post-mortem delay

O Jahn, SB Siems, K Kusch, D Hesse… - Frontiers in Cellular …, 2020 - frontiersin.org
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 …

[HTML][HTML] Next generation sequencing and the future of genetic diagnosis

K Lohmann, C Klein - Neurotherapeutics, 2014 - Elsevier
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 …