Golgipathies in Neurodevelopment: A New View of Old Defects

TY - JOUR

T1 - Golgipathies in Neurodevelopment

T2 - A New View of Old Defects

AU - Rasika, Sowmyalakshmi

AU - Passemard, Sandrine

AU - Verloes, Alain

AU - Gressens, Pierre

AU - El Ghouzzi, Vincent

N1 - © 2019 S. Karger AG, Basel.

PY - 2019/7/1

Y1 - 2019/7/1

N2 - The Golgi apparatus (GA) is involved in a whole spectrum of activities, from lipid biosynthesis and membrane secretion to the posttranslational processing and trafficking of most proteins, the control of mitosis, cell polarity, migration and morphogenesis, and diverse processes such as apoptosis, autophagy, and the stress response. In keeping with its versatility, mutations in GA proteins lead to a number of different disorders, including syndromes with multisystem involvement. Intriguingly, however, > 40% of the GA-related genes known to be associated with disease affect the central or peripheral nervous system, highlighting the critical importance of the GA for neural function. We have previously proposed the term "Golgipathies" in relation to a group of disorders in which mutations in GA proteins or their molecular partners lead to consequences for brain development, in particular postnatal-onset microcephaly (POM), white-matter defects, and intellectual disability (ID). Here, taking into account the broader role of the GA in the nervous system, we refine and enlarge this emerging concept to include other disorders whose symptoms may be indicative of altered neurodevelopmental processes, from neurogenesis to neuronal migration and the secretory function critical for the maturation of postmitotic neurons and myelination.

AB - The Golgi apparatus (GA) is involved in a whole spectrum of activities, from lipid biosynthesis and membrane secretion to the posttranslational processing and trafficking of most proteins, the control of mitosis, cell polarity, migration and morphogenesis, and diverse processes such as apoptosis, autophagy, and the stress response. In keeping with its versatility, mutations in GA proteins lead to a number of different disorders, including syndromes with multisystem involvement. Intriguingly, however, > 40% of the GA-related genes known to be associated with disease affect the central or peripheral nervous system, highlighting the critical importance of the GA for neural function. We have previously proposed the term "Golgipathies" in relation to a group of disorders in which mutations in GA proteins or their molecular partners lead to consequences for brain development, in particular postnatal-onset microcephaly (POM), white-matter defects, and intellectual disability (ID). Here, taking into account the broader role of the GA in the nervous system, we refine and enlarge this emerging concept to include other disorders whose symptoms may be indicative of altered neurodevelopmental processes, from neurogenesis to neuronal migration and the secretory function critical for the maturation of postmitotic neurons and myelination.

KW - Apoptosis

KW - Cell cycle

KW - Golgi apparatus

KW - Intellectual disability

KW - Microcephaly

KW - Neurodevelopment

KW - Trafficking

UR - https://www.scopus.com/pages/publications/85063488117

U2 - 10.1159/000497035

DO - 10.1159/000497035

M3 - Review article

C2 - 30878996

SN - 0378-5866

VL - 40

SP - 396

EP - 416

JO - Developmental Neuroscience

JF - Developmental Neuroscience

IS - 5-6

ER -