Abstract
| Original language | Unknown |
|---|---|
| Pages (from-to) | 871-885 |
| Journal | Traffic |
| Volume | 14 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 1 Jan 2013 |
Cite this
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Rab and Arf Proteins in Genetic Diseases. / Fonseca, Elsa Marina Galinho de Seixas da; Barros, Mafalda Maria Teles de; Barral, Duarte Custal Ferreira; Seabra, Miguel Pedro Pires Cardoso de.
In: Traffic, Vol. 14, No. 8, 01.01.2013, p. 871-885.Research output: Contribution to journal › Article
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 -