Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

M Huizing, A Helip-Wooley, W Westbroek… - … Rev. Genomics Hum …, 2008 - annualreviews.org
Lysosome-related organelles (LROs) are a heterogeneous group of vesicles that share
various features with lysosomes, but are distinct in function, morphology, and composition …

Neuronal migration in the CNS during development and disease: insights from in vivo and in vitro models

IY Buchsbaum, S Cappello - Development, 2019 - journals.biologists.com
Neuronal migration is a fundamental process that governs embryonic brain development. As
such, mutations that affect essential neuronal migration processes lead to severe brain …

Regulation of Arf activation: the Sec7 family of guanine nucleotide exchange factors

JE Casanova - Traffic, 2007 - Wiley Online Library
The ADP ribosylation factors (Arfs) are a family of small, ubiquitously expressed and
evolutionarily conserved guanosine triphosphatases that are key regulators of vesicular …

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

E Parrini, A Ramazzotti, WB Dobyns, D Mei, F Moro… - Brain, 2006 - academic.oup.com
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral
ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with …

Nucleokinesis in tangentially migrating neurons comprises two alternating phases: forward migration of the Golgi/centrosome associated with centrosome splitting and …

A Bellion, JP Baudoin, C Alvarez… - Journal of …, 2005 - Soc Neuroscience
During rodent cortex development, cells born in the medial ganglionic eminence (MGE) of
the basal telencephalon reach the embryonic cortex by tangential migration and differentiate …

[图书][B] Greenfield's Neuropathology-Two Volume Set

S Love, A Perry, J Ironside, H Budka - 2018 - books.google.com
Greenfield's Neuropathology, the world's leading neuropathology reference, provides a
comprehensive account of the pathological findings in neurological disease, their biological …

The ins and outs of E-cadherin trafficking

DM Bryant, JL Stow - Trends in cell biology, 2004 - cell.com
One way of controlling the activity of E-cadherin–a protein that is, simultaneously, a major
cell-adhesion molecule, a powerful tumour suppressor, a determinant of cell polarity and a …

A developmental and genetic classification for midbrain-hindbrain malformations

AJ Barkovich, KJ Millen, WB Dobyns - Brain, 2009 - academic.oup.com
Advances in neuroimaging, developmental biology and molecular genetics have increased
the understanding of developmental disorders affecting the midbrain and hindbrain, both as …

Neuronal migration disorders

R Guerrini, E Parrini - Neurobiology of disease, 2010 - Elsevier
Lissencephaly–pachygyria-severe band heterotopia are diffuse neuronal migration
disorders (NMDs) causing severe, global neurological impairment. Abnormalities of the …

Genetics and mechanisms leading to human cortical malformations

DM Romero, N Bahi-Buisson, F Francis - Seminars in cell & developmental …, 2018 - Elsevier
Cerebral cortical development involves a complex series of highly regulated steps to
generate the laminated structure of the adult neocortex. Neuronal migration is a key part of …