27 Citations (Scopus)

Abstract

Rab and ADP-ribosylation factor (Arf) family proteins are master regulators of membrane trafficking and are involved in all steps of vesicular transport. These families of small guanine-nucleotide-binding (G) proteins are well suited to regulate membrane trafficking processes since their nucleotide state determines their conformation and the capacity to bind to a multitude of effectors, which mediate their functions. In recent years, several inherited diseases have been associated with mutations in genes encoding proteins belonging to these two families or in proteins that regulate their GTP-binding cycle. The genetic diseases that are caused by defects in Rabs, Arfs or their regulatory proteins are heterogeneous and display diverse symptoms. However, these diseases mainly affect two types of subcellular compartments, namely lysosome-related organelles and cilia. Also, several of these diseases affect the nervous system. Thus, the study of these diseases represents an opportunity to understand their etiology and the molecular mechanisms involved, as well as to develop novel therapeutic strategies.
Original languageUnknown
Pages (from-to)871-885
JournalTraffic
Volume14
Issue number8
DOIs
Publication statusPublished - 1 Jan 2013

Cite this

@article{abd55b8d5ac74e9fa4a9cf2c5b3d4b7b,
title = "Rab and Arf Proteins in Genetic Diseases",
abstract = "Rab and ADP-ribosylation factor (Arf) family proteins are master regulators of membrane trafficking and are involved in all steps of vesicular transport. These families of small guanine-nucleotide-binding (G) proteins are well suited to regulate membrane trafficking processes since their nucleotide state determines their conformation and the capacity to bind to a multitude of effectors, which mediate their functions. In recent years, several inherited diseases have been associated with mutations in genes encoding proteins belonging to these two families or in proteins that regulate their GTP-binding cycle. The genetic diseases that are caused by defects in Rabs, Arfs or their regulatory proteins are heterogeneous and display diverse symptoms. However, these diseases mainly affect two types of subcellular compartments, namely lysosome-related organelles and cilia. Also, several of these diseases affect the nervous system. Thus, the study of these diseases represents an opportunity to understand their etiology and the molecular mechanisms involved, as well as to develop novel therapeutic strategies.",
keywords = "AMPA RECEPTORS, secretion, CHYLOMICRON RETENTION DISEASE, ciliopathies, GRISCELLI-SYNDROME, lysosome-related organelles, small GTPases, membrane trafficking, RETINAL-PIGMENT EPITHELIUM, BARDET-BIEDL-SYNDROME, HERMANSKY-PUDLAK-SYNDROME, WARBURG MICRO SYNDROME, GTPASE-ACTIVATING PROTEIN, LINKED MENTAL-RETARDATION, NUCLEOTIDE EXCHANGE FACTOR",
author = "Fonseca, {Elsa Marina Galinho de Seixas da} and Barros, {Mafalda Maria Teles de} and Barral, {Duarte Custal Ferreira} and Seabra, {Miguel Pedro Pires Cardoso de}",
year = "2013",
month = "1",
day = "1",
doi = "10.1111/tra.12072",
language = "Unknown",
volume = "14",
pages = "871--885",
journal = "Traffic",
issn = "1398-9219",
publisher = "John Wiley and Sons",
number = "8",

}

TY - JOUR

T1 - Rab and Arf Proteins in Genetic Diseases

AU - Fonseca, Elsa Marina Galinho de Seixas da

AU - Barros, Mafalda Maria Teles de

AU - Barral, Duarte Custal Ferreira

AU - Seabra, Miguel Pedro Pires Cardoso de

PY - 2013/1/1

Y1 - 2013/1/1

N2 - Rab and ADP-ribosylation factor (Arf) family proteins are master regulators of membrane trafficking and are involved in all steps of vesicular transport. These families of small guanine-nucleotide-binding (G) proteins are well suited to regulate membrane trafficking processes since their nucleotide state determines their conformation and the capacity to bind to a multitude of effectors, which mediate their functions. In recent years, several inherited diseases have been associated with mutations in genes encoding proteins belonging to these two families or in proteins that regulate their GTP-binding cycle. The genetic diseases that are caused by defects in Rabs, Arfs or their regulatory proteins are heterogeneous and display diverse symptoms. However, these diseases mainly affect two types of subcellular compartments, namely lysosome-related organelles and cilia. Also, several of these diseases affect the nervous system. Thus, the study of these diseases represents an opportunity to understand their etiology and the molecular mechanisms involved, as well as to develop novel therapeutic strategies.

AB - Rab and ADP-ribosylation factor (Arf) family proteins are master regulators of membrane trafficking and are involved in all steps of vesicular transport. These families of small guanine-nucleotide-binding (G) proteins are well suited to regulate membrane trafficking processes since their nucleotide state determines their conformation and the capacity to bind to a multitude of effectors, which mediate their functions. In recent years, several inherited diseases have been associated with mutations in genes encoding proteins belonging to these two families or in proteins that regulate their GTP-binding cycle. The genetic diseases that are caused by defects in Rabs, Arfs or their regulatory proteins are heterogeneous and display diverse symptoms. However, these diseases mainly affect two types of subcellular compartments, namely lysosome-related organelles and cilia. Also, several of these diseases affect the nervous system. Thus, the study of these diseases represents an opportunity to understand their etiology and the molecular mechanisms involved, as well as to develop novel therapeutic strategies.

KW - AMPA RECEPTORS

KW - secretion

KW - CHYLOMICRON RETENTION DISEASE

KW - ciliopathies

KW - GRISCELLI-SYNDROME

KW - lysosome-related organelles

KW - small GTPases

KW - membrane trafficking

KW - RETINAL-PIGMENT EPITHELIUM

KW - BARDET-BIEDL-SYNDROME

KW - HERMANSKY-PUDLAK-SYNDROME

KW - WARBURG MICRO SYNDROME

KW - GTPASE-ACTIVATING PROTEIN

KW - LINKED MENTAL-RETARDATION

KW - NUCLEOTIDE EXCHANGE FACTOR

U2 - 10.1111/tra.12072

DO - 10.1111/tra.12072

M3 - Article

VL - 14

SP - 871

EP - 885

JO - Traffic

JF - Traffic

SN - 1398-9219

IS - 8

ER -