Tubulin mutations in human neurodevelopmental disorders

C Maillard, CJ Roux, F Charbit-Henrion… - Seminars in Cell & …, 2023 - Elsevier
Mutations causing dysfunction of tubulins and microtubule-associated proteins, also known
as tubulinopathies, are a group of recently described entities that lead to complex brain …

Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation

N Eskici, S Madhusudan, K Vaaralahti… - European Journal of …, 2023 - academic.oup.com
Objective Congenital hypogonadotropic hypogonadism (CHH) is a rare, genetically
heterogeneous reproductive disorder caused by gonadotropin-releasing hormone (GnRH) …

Illuminating the terminal nerve: uncovering the link between GnRH-1 and olfactory development

E Amato Jr, EZM Taroc, PE Forni - BioRxiv, 2023 - biorxiv.org
During embryonic development, the olfactory placode (OP) generates migratory neurons,
including olfactory pioneer neurons, cells of the terminal nerve (TN), Gonadotropin-releasing …

A tale of 12 tails: Katanin severing activity affected by carboxy-terminal tail sequences

KA Lindsay, N Abdelhamid, S Kahawatte, RI Dima… - Biomolecules, 2023 - mdpi.com
In cells, microtubule location, length, and dynamics are regulated by a host of microtubule-
associated proteins and enzymes that read where to bind and act based on the microtubule …

Echoencephalography of Möbius sequence: A congenital cranial dysinnervation disorder with brainstem calcifications

R Rawhani, K Sharma, P Maertens - Journal of Neuroimaging, 2023 - Wiley Online Library
Background and Purpose Möbius sequence (MBS) previously known as Möbius syndrome
is a rare nonprogressive developmental defect of the rhombencephalon leading to …

TUBB3 and KIF21A in neurodevelopment and disease

D Puri, BJ Barry, EC Engle - Frontiers in Neuroscience, 2023 - frontiersin.org
Neuronal migration and axon growth and guidance require precise control of microtubule
dynamics and microtubule-based cargo transport. TUBB3 encodes the neuronal-specific β …

Congenital Fibrosis of the Extraocular Muscles (CFEOM): A Baby with Poor Tracking and Exotropia

MC Whitman, EC Engle - … of Pediatric Neuro-Ophthalmology: A Practical …, 2023 - Springer
A baby boy presented to the ophthalmology clinic at age 2 months of age with poor visual
behavior. His parents reported that he did not seem to fix and follow objects, or to respond to …