Rab and Arf proteins in genetic diseases (Q26862704)

Duarte C. Barral

series ordinal

4

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language of work or name

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August 2013

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14

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PubMed

issue

8

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PubMed

page(s)

871-85

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ARF family G proteins and their regulators: roles in membrane transport, development and disease.

PubMed

cites work

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Rab GTPases as coordinators of vesicle traffic

21 January 2018

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The small G proteins of the Arf family and their regulators

21 January 2018

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cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein

21 January 2018

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Molecular cloning and characterization of a novel type of regulatory protein (GDI) for smg p25A, a ras p21-like GTP-binding protein

21 January 2018

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Yip3 catalyses the dissociation of endosomal Rab–GDI complexes

21 January 2018

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The melanosome as a model to study organelle motility in mammals

21 January 2018

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Rab3GEP is the non-redundant guanine nucleotide exchange factor for Rab27a in melanocytes.

21 January 2018

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A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport

21 January 2018

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Novel myosin heavy chain encoded by murine dilute coat colour locus

21 January 2018

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A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

21 January 2018

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Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice

21 January 2018

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Cultured melanocytes from dilute mutant mice exhibit dendritic morphology and altered melanosome distribution

21 January 2018

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Griscelli syndrome: a model system to study vesicular trafficking

21 January 2018

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Cellular and clinical report of new Griscelli syndrome type III cases

21 January 2018

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Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

21 January 2018

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Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

21 January 2018

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A role for myosin Va in cerebellar plasticity and motor learning: a possible mechanism underlying neurological disorder in myosin Va disease

21 January 2018

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

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Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene

21 January 2018

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Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice

21 January 2018

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Rab27a is required for regulated secretion in cytotoxic T lymphocytes

21 January 2018

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Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome

21 January 2018

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Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

21 January 2018

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An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q

21 January 2018

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Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

21 January 2018

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Rab27a regulates the peripheral distribution of melanosomes in melanocytes

21 January 2018

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Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets

21 January 2018

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Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease

21 January 2018

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Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.

21 January 2018

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Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia

21 January 2018

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Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus

21 January 2018

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Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function

21 January 2018

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Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking

21 January 2018

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Hermansky-Pudlak syndrome and related disorders of organelle formation

21 January 2018

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The cell biology of Hermansky-Pudlak syndrome: recent advances

21 January 2018

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The gunmetal mouse reveals Rab geranylgeranyl transferase to be the major molecular target of phosphonocarboxylate analogues of bisphosphonates

21 January 2018

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Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis

21 January 2018

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Cell-specific abnormal prenylation of Rab proteins in platelets and melanocytes of the gunmetal mouse

21 January 2018

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Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development

21 January 2018

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Mutation of melanosome protein RAB38 in chocolate mice

21 January 2018

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Expression and characterization of Rab38, a new member of the Rab small G protein family

21 January 2018

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Melanosome maturation defect in Rab38-deficient retinal pigment epithelium results in instability of immature melanosomes during transient melanogenesis

21 January 2018

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A mutation in Rab38 small GTPase causes abnormal lung surfactant homeostasis and aberrant alveolar structure in mice

21 January 2018

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X-linked mental retardation

21 January 2018

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

21 January 2018

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21 January 2018

XLMR genes: update 2007.

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Mutations in GDI1 are responsible for X-linked non-specific mental retardation

21 January 2018

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Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.

21 January 2018

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Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport

21 January 2018

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Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice

21 January 2018

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NMDA receptor-dependent activation of the small GTPase Rab5 drives the removal of synaptic AMPA receptors during hippocampal LTD.

21 January 2018

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Functional compartmentalization of endosomal trafficking for the synaptic delivery of AMPA receptors during long-term potentiation

21 January 2018

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The molecular biology of memory storage: a dialogue between genes and synapses

21 January 2018

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Role of AMPA receptor cycling in synaptic transmission and plasticity

21 January 2018

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Subunit rules governing the sorting of internalized AMPA receptors in hippocampal neurons

21 January 2018

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Reinsertion or degradation of AMPA receptors determined by activity-dependent endocytic sorting

21 January 2018

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Recycling endosomes supply AMPA receptors for LTP

21 January 2018

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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

21 January 2018

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

21 January 2018

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Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

21 January 2018

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Long-term depression: multiple forms and implications for brain function

21 January 2018

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AMPA receptor signaling through BRAG2 and Arf6 critical for long-term synaptic depression

21 January 2018

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Arf6-GEF BRAG1 regulates JNK-mediated synaptic removal of GluA1-containing AMPA receptors: a new mechanism for nonsyndromic X-linked mental disorder

21 January 2018

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Periventricular heterotopia.

21 January 2018

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Autosomal recessive form of periventricular heterotopia

21 January 2018

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Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

21 January 2018

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Early embryonic lethality in gene trap mice with disruption of the Arfgef2 gene

21 January 2018

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Disease mechanisms in hereditary sensory and autonomic neuropathies

21 January 2018

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Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

21 January 2018

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A novel RAB7 mutation associated with ulcero-mutilating neuropathy

21 January 2018

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Rab5 and Rab7 control endocytic sorting along the axonal retrograde transport pathway

21 January 2018

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CMT2B-associated Rab7 mutants inhibit neurite outgrowth.

21 January 2018

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Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3

21 January 2018

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A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

21 January 2018

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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

21 January 2018

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Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

21 January 2018

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Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

21 January 2018

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Rab18 and Rab43 have key roles in ER-Golgi trafficking

21 January 2018

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Ciliogenesis: building the cell's antenna

21 January 2018

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Assembly of primary cilia

21 January 2018

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The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

21 January 2018

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Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier?

21 January 2018

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Functional dissection of Rab GTPases involved in primary cilium formation

21 January 2018

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Coordination of Rab8 and Rab11 in primary ciliogenesis

21 January 2018

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A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis

21 January 2018

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RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

21 January 2018

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RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome

21 January 2018

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Cilia and Hedgehog responsiveness in the mouse

21 January 2018

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Vertebrate Smoothened functions at the primary cilium

21 January 2018

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Patched1 regulates hedgehog signaling at the primary cilium

21 January 2018

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Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway

21 January 2018

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Mouse Rab23 regulates hedgehog signaling from smoothened to Gli proteins

21 January 2018

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Differential role of Rab proteins in ciliary trafficking: Rab23 regulates smoothened levels

21 January 2018

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The graded response to Sonic Hedgehog depends on cilia architecture

21 January 2018

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A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

21 January 2018

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Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins

21 January 2018

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SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors

21 January 2018

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Arl13b regulates endocytic recycling traffic.

21 January 2018

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Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans

21 January 2018

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The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis

21 January 2018

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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

21 January 2018

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Joubert syndrome: insights into brain development, cilium biology, and complex disease

21 January 2018

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Sonic hedgehog signaling is required for expansion of granule neuron precursors and patterning of the mouse cerebellum

21 January 2018

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Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool

21 January 2018

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Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

21 January 2018

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21 January 2018

Bardet-Biedl syndrome.

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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

21 January 2018

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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

21 January 2018

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A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

21 January 2018

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The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia

21 January 2018

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Light in retinitis pigmentosa

21 January 2018

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Positional cloning of the gene for X-linked retinitis pigmentosa 2

21 January 2018

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The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3

21 January 2018

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Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

21 January 2018

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ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development

21 January 2018

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The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

21 January 2018

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Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C

21 January 2018

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Associations of elements of the Golgi apparatus with microtubules

21 January 2018

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Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

21 January 2018

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Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

21 January 2018

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Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.

21 January 2018

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Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

21 January 2018

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Coordination of COPII vesicle trafficking by Sec23.

21 January 2018

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COPII-mediated vesicle formation at a glance

21 January 2018

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COPII proteins are required for Golgi fusion but not for endoplasmic reticulum budding of the pre-chylomicron transport vesicle

21 January 2018

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Expression of Sar1b enhances chylomicron assembly and key components of the coat protein complex II system driving vesicle budding.

21 January 2018

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Rab GTPases, intracellular traffic and disease.

21 January 2018

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Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

21 January 2018

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