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SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
Open accessAbstract
Patients with Charcot-Marie-Tooth neuropathy and gene targeting in mice revealed an essential role for the SH3TC2 gene in peripheral nerve myelination. SH3TC2 expression is restricted to Schwann cells in the peripheral nervous system, and the gene product, SH3TC2, localizes to the perinuclear recycling compartment. Here, we show that SH3TC2 interacts with the small guanosine triphosphatase Rab11, which is known to regulate the recycling of internalized membranes and receptors back to the cell surface. Results of protein binding studies and transferrin receptor trafficking are in line with a role of SH3TC2 as a Rab11 effector molecule. Consistent with a function of Rab11 in Schwann cell myelination, SH3TC2 mutations that cause neuropathy disrupt the SH3TC2/Rab11 interaction, and forced expression of dominant negative Rab11 strongly impairs myelin formation in vitro. Our data indicate that the SH3TC2/Rab11 interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination.
Overview
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Written from the paper’s full text.
TL;DR
SH3TC2, the protein mutated in Charcot–Marie–Tooth disease type 4C (CMT4C), is a direct Rab11 effector localized to the endosomal recycling compartment, and CMT4C missense mutations disrupt this interaction. Rab11 activity regulates Schwann cell myelination in vitro, linking endosomal recycling to peripheral nerve myelination.
Key findings
- SH3TC2 was identified as a direct Rab11 interactor by tandem affinity purification/mass spectrometry, coimmunoprecipitation, GST pulldown, and yeast two-hybrid assays; binding was specific to Rab11 and occurred with active GTP-bound Rab11_Q70L but not dominant-negative Rab11_S25N or the effector-domain mutant Rab11a_Q70L_I44E.
- All tested CMT4C-associated missense substitutions (five in Fig. 4A) disrupted SH3TC2/Rab11a binding, while rodent Sh3tc2 still bound human Rab11a despite ~20% nonconserved residues.
- Wild-type SH3TC2 slowed transferrin receptor recycling and condensed Rab11a-positive perinuclear recycling endosomes; the N881S mutant had only a slight effect. In Sh3tc2 knockout sciatic nerves, Rab11a protein levels were reduced while Rab11a mRNA was unchanged.
- In in vitro myelination, dominant-negative Rab11a_S25N strongly impaired myelin basic protein-positive segments, whereas constitutively active Rab11a_Q70L increased myelination in dorsal root ganglion explants and Schwann cell/neuron co-cultures.
Methods
- Protein interactions were assayed by tandem affinity purification from inducible SH3TC2-C-TAP Flp-In T-REx 293 cells followed by mass spectrometry, coimmunoprecipitation in HEK293 cells, GST pulldown with in vitro translated SH3TC2/Sh3tc2 and Rab11 mutants, and yeast two-hybrid.
- Cell biology included immunofluorescence in HEK293, COS7, and RT4-D6P2T cells; subcellular fractionation on 5–25% Optiprep gradients; transferrin recycling by FACS (2000 GFP-positive cells, three repeats); and Rab11a surface reconstruction in 100 transfected COS7 cells per condition.
- Myelination was assessed in mouse embryonic day 13.5 dorsal root ganglion explants and rat Schwann cell/mouse dorsal root ganglion neuron co-cultures transduced with lentiviral GFP, Rab11a_Q70L-GFP, or Rab11a_S25N-GFP; myelin basic protein staining was quantified from 10 fields per coverslip in triplicate experiments with at least three coverslips per condition, using mean ± SEM and two-tailed Student’s t-test.
Limitations
- Stated: the authors could not identify the specific SH3TC2 protein region or a shorter linear motif mediating Rab11 binding, and CMT4C substitutions disrupting the complex are spread throughout the protein.
- Stated: SH3TC2 may also influence myelination in a Rab11-independent manner, and other proteins in the SH3TC2 complex were not investigated for PNS/Schwann cell roles.
- Stated/evident: no antibody against endogenous Sh3tc2 was available, so the Schwann cell line had to be transfected with a FLAG construct; the findings rely heavily on overexpression and in vitro myelination systems, with no in vivo rescue of the SH3TC2/Rab11 interaction.
Model-written summary. Check it against the paper before relying on it.
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Claims the paper makes
0 of 45 cited sources checked · 0 supported · 0 flagged
- Findingown data
Expression of constitutively active Rab11a increases myelin formation/myelinated segments in vitro.
“On the other hand, infection with a lentivirus containing constitutively active Rab11a resulted in an increased number of myelinated segments (Supplementary Fig. 5A and B).”
- Also stated in: § Results · plain
“expression of the constitutively active Rab11a resulted in moderately increased myelination (Fig. 6A and B).”
Quote in the paperSubstantial claim - Also stated in: § Results · plain
- Findingown data
SH3TC2 does not colocalize with marker proteins for other perinuclear organelles.
“Conversely, we observed no colocalization of SH3TC2 with marker proteins for other perinuclear organelles (Supplementary Fig. 3).”
Quote in the paperNot a substantial claim - Findingown data
SH3TC2 and Rab11a localization overlaps in the perinuclear region in HEK293, COS7 and RT4-D6P2T cell lines.
“The localization of both proteins overlapped in the perinuclear region in all three cell lines (Fig. 2A).”
Quote in the paperSubstantial claim - Findingown data
Overexpression of wild-type SH3TC2 moderately slows transferrin recycling compared with CMT4C mutants or GFP control.
“Overexpression of wild-type SH3TC2 resulted in moderate slowing of transferrin recycling as compared with transferrin retention in cells transfected with CMT4C mutants or a GFP control vector (Fig. 5B and Supplementary Table 1).”
Quote in the paperSubstantial claim - Findingown data
SH3TC2 interacts with Rab11.
“Here, we show that SH3TC2 interacts with the small guanosine triphosphatase Rab11, which is known to regulate the recycling of internalized membranes and receptors back to the cell surface.”
- Also stated in: § Results · plain
“In addition to the co-precipitation of Rab11a along with SH3TC2, immunoprecipitation in the other direction showed that SH3TC2 could be coprecipitated with GFP-Rab11a as well (Fig. 1C).”
Quote in the paperSubstantial claim - Also stated in: § Results · plain
- Findingown data
SH3TC2 binds directly to both Rab11 isoforms, Rab11a and Rab11b.
“Results from GST pulldown and yeast two-hybrid experiments provided further evidence for the interaction between SH3TC2 and both Rab11 isoforms and showed that SH3TC2 binds directly to Rab11 (Fig. 1D and E; Supplementary Fig. 1B).”
Quote in the paperSubstantial claim - Findingown data
CMT4C-causing missense mutations in SH3TC2 disrupt the SH3TC2/Rab11a interaction.
“SH3TC2 mutations that cause neuropathy disrupt the SH3TC2/Rab11 interaction”
- Also stated in: § Results · plain
“We found that all tested amino acid substitutions related to missense mutations observed in patients with CMT4C disrupted the SH3TC2/Rab11a interaction (Fig. 4A).”
Quote in the paperSubstantial claim - Also stated in: § Results · plain
- Findingown data
SH3TC2 interacts with constitutively active GTP-bound Rab11_Q70L.
“We found that SH3TC2 interacts with the constitutive active GTP-bound Rab11_Q70L mutants, while there is no binding to the dominant negative guanosine diphosphate-bound Rab11_S25N mutants or to Rab11a_Q70L_I44E, a constitutively active mutant which has a second mutation in its effector domain abrogating effector binding (Wallace et al., 2002) (Fig. 5A and Supplementary Fig. 4B).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Wallace et al., 2002 source
- Findingown data
Forced expression of dominant negative Rab11 strongly impairs myelin formation in vitro.
“forced expression of dominant negative Rab11 strongly impairs myelin formation in vitro.”
- Also stated in: § Results · plain
“Infection of dorsal root ganglia explants with a lentivirus encoding the dominant negative mutant of Rab11a impaired myelination compared with the control infected with a virus for GFP alone.”
Quote in the paperSubstantial claim - Also stated in: § Results · plain
- Findingown data
Wild-type SH3TC2 condenses the perinuclear recycling compartment in a considerable proportion of transfected cells.
“The data we obtained confirmed that wild-type SH3TC2 condenses the perinuclear recycling compartment in a considerable proportion of transfected cells, while the N881S mutant had only a slight effect on recycling endosome morphology (Fig. 5C).”
Quote in the paperSubstantial claim - Findingown data
Rab11a expression is strongly upregulated around post-natal day 10 during early stages of PNS development.
“during the early stages of post-natal PNS development, Rab11a expression was strongly upregulated around post-natal day 10 (Fig. 3B)”
Quote in the paperNot a substantial claim - Findingown data
Rat and mouse Sh3tc2 proteins bind to human Rab11a.
“On the other hand, rat and mouse Sh3tc2 proteins bind to human Rab11a (Fig. 4B)”
Quote in the paperSubstantial claim - Findingown data
The N881S mutant has only a slight effect on recycling endosome morphology.
“while the N881S mutant had only a slight effect on recycling endosome morphology (Fig. 5C).”
Quote in the paperSubstantial claim - Findingown data
Perinuclear Rab11-positive compartments are moderately less compact in Schwann cells lacking Sh3tc2 than in wild-type.
“The perinuclear Rab11 positive compartments are moderately less compact in Schwann cells lacking Sh3tc2 than in the wild-type situation (Fig. 5D).”
Quote in the paperSubstantial claim - Findingown data
CMT4C-related missense mutations affect amino acid residues in SH3TC2/Sh3tc2 that are conserved through evolution.
“CMT4C-related missense mutations affect amino acid residues in SH3TC2/Sh3tc2 that are conserved through evolution (indicated with asterisks).”
Quote in the paperNot a substantial claim - Findingown data
CMT4C missense mutations disrupt SH3TC2 binding to Rab11.
“SH3TC2 binding to Rab11 is disrupted by CMT4C missense mutations.”
Quote in the paperSubstantial claim - Findingown data
SH3TC2 can self-interact.
“Using coimmunoprecipitation of full-length SH3TC2, we were able to demonstrate that SH3TC2 can self-interact (Supplementary Fig. 4C).”
Quote in the paperNot a substantial claim - Findingnone given
Single amino acid substitutions disrupting the SH3TC2/Rab11 complex are spread throughout the SH3TC2 protein.
“Moreover, single amino acid substitutions disrupting the SH3TC2/Rab11 complex are spread throughout the protein.”
Quote in the paperSubstantial claim - Findingcitation
SH3TC2 does not contain a known Rab11-binding motif found in several other Rab11-interacting proteins.
“In line with this hypothesis, SH3TC2 does not contain a known Rab11-binding motif found in several other Rab11-interacting proteins (Prekeris et al., 2001).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Prekeris et al., 2001 source
- Findingown data
Rab11a protein levels are reduced in sciatic nerves of Sh3tc2 knockout mice.
“Indeed, we found that Rab11a protein levels were reduced in sciatic nerves of Sh3tc2 knockout mice (Fig. 5E).”
Quote in the paperSubstantial claim - Findingown data
Immunoprecipitation, GST pull down and yeast-two-hybrid data demonstrated the SH3TC2/Rab11 interaction.
“While our immunoprecipitation, GST pull down and yeast-twohybrid data clearly demonstrated the SH3TC2/Rab11 interaction”
- Also stated in: § Discussion · plain
“SH3TC2 interacts with the small GTPase Rab11.”
Quote in the paperSubstantial claim - Also stated in: § Discussion · plain
- Findingown data
Rab11a mRNA levels are unchanged in Sh3tc2-deficient mice.
“Conversely, levels of Rab11a mRNA were unchanged in Sh3tc2-deficient mice, suggesting that Rab11a expression is differently regulated at the protein level in knockout and wild-type animals.”
Quote in the paperSubstantial claim - Findingown data
SH3TC2 affects recycling endosome morphology.
“Effect of SH3TC2 on recycling endosome morphology.”
Quote in the paperSubstantial claim - Findingown data
Rab11 is involved in the regulation of Schwann cell myelination in vitro.
“In addition, we have shown that Rab11 itself is involved in the regulation of Schwann cell myelination in vitro”
- Also stated in: § Discussion · plain
“Rab11 regulates Schwann cell myelination in Schwann cell/neuron co-cultures.”
Quote in the paperSubstantial claim - Also stated in: § Discussion · plain
- Findingown data
SH3TC2 mutants were not degraded when expressed in cells.
“However, we did not observe degradation of SH3TC2 mutants when expressed in cells (data not shown).”
Quote in the paperSubstantial claim - Findingown data
SH3TC2 and Rab11 localize to the same intracellular compartment.
“SH3TC2 and Rab11 localize to the same intracellular compartment.”
Quote in the paperSubstantial claim - Findingown data
We were unable to define a shorter linear motif in the SH3TC2 protein that supports the interaction with Rab11.
“we were unable to define a shorter linear motif in the SH3TC2 protein which supports the interaction with Rab11 (Supplementary Fig. 2).”
Quote in the paperNot a substantial claim - Interpretationown data
The SH3TC2/Rab11 interaction is relevant for peripheral nerve pathophysiology.
“Our data indicate that the SH3TC2/Rab11 interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination.”
Quote in the paperSubstantial claim - Interpretationown data
Disruption of the SH3TC2/Rab11 complex is a specific effect of CMT4C-causing missense mutations.
“These findings establish that the disruption of the SH3TC2/Rab11 complex is a specific effect of CMT4C-causing missense mutations.”
Quote in the paperSubstantial claim - Premisecitation
SH3TC2 is tethered to cellular membranes through an N-terminal myristic acid anchor.
“SH3TC2 is tethered to cellular membranes through an N-terminal myristic acid anchor and localizes to the plasma membrane and a perinuclear membranous structure (Arnaud et al., 2009;Lupo et al., 2009) that corresponds to the endocytic recycling compartment (Arnaud et al., 2009).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Arnaud et al., 2009;Lupo et al., 2009
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Premisecitation
SH3TC2 has an essential role in peripheral nerve myelination.
“Patients with Charcot-Marie-Tooth neuropathy and gene targeting in mice revealed an essential role for the SH3TC2 gene in peripheral nerve myelination.”
- Also stated in: § Introduction · plain
“Very recently, we found that a mouse model without a functional copy of the Sh3tc2 gene developed a peripheral neuropathy that largely reproduced the human phenotype (Arnaud et al., 2009).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Arnaud et al., 2009 source
- Also stated in: § Introduction · plain
- Premisecitation
CMT4C is caused by mutations in the SH3TC2/KIAA1985 gene on chromosome 5q32.
“We have previously shown that CMT4C is caused by mutations in the SH3TC2 (Src homology 3 domain and tetratricopeptide repeats 2)/KIAA1985 gene on chromosome 5q32 (Senderek et al., 2003).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Senderek et al., 2003 source
- Interpretationown data
Wild-type SH3TC2 affects the rate of recycling along the receptor-mediated endocytosis pathway.
“This suggests that wild-type SH3TC2 affects the rate of recycling along the receptor-mediated endocytosis pathway and this activity is largely absent in cells expressing SH3TC2 mutant proteins.”
Quote in the paperSubstantial claim - Premisecitation
CMT4C is associated with impaired myelination of the PNS.
“One condition associated with impaired myelination of the PNS is Charcot-Marie-Tooth disease type 4C (CMT4C) (LeGuern et al., 1996).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites LeGuern et al., 1996 source
- Premisecitation
SH3TC2/Sh3tc2 expression is restricted to Schwann cells in the peripheral nervous system.
“SH3TC2 expression is restricted to Schwann cells in the peripheral nervous system”
- Also stated in: § Introduction · plain
“Consistent with the tissue and the cell population involved in a demyelinating peripheral neuropathy, Sh3tc2 is exclusively expressed in Schwann cells in peripheral nerves.”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Arnaud et al., 2009 source
- Also stated in: § Introduction · plain
- Premisecitation
SH3TC2 and Rab11a colocalize with gamma-tubulin and internalized transferrin in the perinuclear recycling endosome.
“We have recently shown that both overexpressed proteins, SH3TC2 and Rab11a, colocalize with -tubulin and internalized transferrin in the perinuclear recycling endosome (Arnaud et al., 2009).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Arnaud et al., 2009 source
- Interpretationreasoning
This recycling activity is largely absent in cells expressing SH3TC2 mutant proteins.
“This suggests that wild-type SH3TC2 affects the rate of recycling along the receptor-mediated endocytosis pathway and this activity is largely absent in cells expressing SH3TC2 mutant proteins.”
Quote in the paperSubstantial claim - Interpretationown data
SH3TC2 functions as a Rab11 effector molecule.
“Results of protein binding studies and transferrin receptor trafficking are in line with a role of SH3TC2 as a Rab11 effector molecule.”
- Also stated in: § Results · hedged
“Thus, the SH3TC2/Rab11 interaction is consistent with SH3TC2 functioning as a Rab11 effector.”
Quote in the paperSubstantial claim - Also stated in: § Results · hedged
- Premisecitation
A mouse model without a functional copy of the Sh3tc2 gene develops a peripheral neuropathy that largely reproduces the human phenotype.
“Very recently, we found that a mouse model without a functional copy of the Sh3tc2 gene developed a peripheral neuropathy that largely reproduced the human phenotype (Arnaud et al., 2009).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Arnaud et al., 2009 source
- Interpretationown data
Endosomal recycling is a cellular mechanism involved in Schwann cell myelination.
“place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination.”
Quote in the paperSubstantial claim - Interpretationown data
Rab11 controls Schwann cell myelination.
“Altogether our data suggest that Rab11 controls Schwann cell myelination, most likely through regulation of SH3TC2 activity.”
Quote in the paperSubstantial claim - Interpretationown data
The SH3TC2/Rab11 interaction provides evidence for a distinct molecular mechanism that probably involves the recycling of cargos critical for Schwann cell myelination.
“By demonstrating the SH3TC2/Rab11 interaction, we provide evidence for a distinct molecular mechanism, which probably involves the recycling of cargos that are critical for Schwann cell myelination.”
Quote in the paperSubstantial claim- The authors state this as an assumption: Endocytic recycling may assist morphogenesis of the myelin sheath by sorting and redirecting myelin components.
- Interpretationcitation
The Rab11a developmental expression profile is similar to that of other proteins involved in myelination.
“similar to the developmental expression profile of other proteins involved in myelination (Verheijen et al., 2003).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Verheijen et al., 2003 source
- Interpretationreasoning
The molecular dissection of SH3TC2 function suggests a link between PNS demyelination and endocytic recycling.
“In summary, the molecular dissection of the function of SH3TC2, a protein mutant in a comparatively rare genetic form of peripheral neuropathies, suggests a link between PNS demyelination and a key biological mechanism, endocytic recycling.”
Quote in the paperSubstantial claim- The authors state this as an assumption: Endocytic recycling may assist morphogenesis of the myelin sheath by sorting and redirecting myelin components.
- Premisecitation
SH3TC2 contains Src homology 3 domains and tetratricopeptide repeats known to mediate the formation of protein complexes.
“Based on the observation that SH3TC2 contains several protein motifs (Src homology 3 domain domains and tetratricopeptide repeat repeats, Fig. 1A) known to mediate the formation of protein complexes (Senderek et al., 2003), we hypothesized that we might be able to deduce the function of SH3TC2 from already known functions of interacting proteins.”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Senderek et al., 2003 source
- Interpretationreasoning
Rab11a expression is differently regulated at the protein level in knockout and wild-type animals.
“suggesting that Rab11a expression is differently regulated at the protein level in knockout and wild-type animals.”
Quote in the paperSubstantial claim - Premisecitation
Mutations in the SH3TC2/Sh3tc2 gene cause demyelinating hereditary neuropathy in humans and mice.
“We have previously shown that mutations in the SH3TC2/Sh3tc2 gene cause demyelinating hereditary neuropathy in humans and mice (Senderek et al., 2003;Arnaud et al., 2009).”
Quote in the paperSubstantial claim0 of 2 sources checked - Interpretationown data
Rab11 controls Schwann cell myelination most likely through regulation of SH3TC2 activity.
“Altogether our data suggest that Rab11 controls Schwann cell myelination, most likely through regulation of SH3TC2 activity.”
Quote in the paperSubstantial claim - Interpretationown data
SH3TC2 acts as an effector of Rab11.
“SH3TC2 acts as an effector of Rab11”
- Also stated in: § Discussion · boosted
“While the data presented by Roberts et al. (2010) and by our group independently confirm that SH3TC2 is a new Rab11 effector molecule”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Roberts et al., 2010 source
- Also stated in: § Discussion · boosted
- Interpretationreasoning
The SH3TC2/Rab11 interaction is pathophysiologically relevant for peripheral nerves.
“supporting the pathophysiological relevance of the observed SH3TC2/Rab11 interaction for peripheral nerves”
- Also stated in: § Discussion · boosted
“demonstrating the relevance of the SH3TC2/Rab11 interaction for PNS pathology”
Quote in the paperSubstantial claim - Also stated in: § Discussion · boosted
- Premisecitation
The presence of the known Rab11-binding motif is not a prerequisite to function as a Rab11 effector.
“Obviously, the presence of this motif is not a prerequisite to function as a Rab11 effector, as it does not occur in all Rab11-interactors (Wu et al., 2005;Westlake et al., 2007).”
Quote in the paperNot a substantial claim0 of 2 sources checked- cites Wu et al., 2005
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites Westlake et al., 2007 source
- It may state two separate claims as one. 11
- Probably not a substantial claim. 20
It may state two separate claims as one.
Findingown dataSH3TC2 does not bind dominant negative GDP-bound Rab11_S25N or Rab11a_Q70L_I44E.
“while there is no binding to the dominant negative guanosine diphosphate-bound Rab11_S25N mutants or to Rab11a_Q70L_I44E, a constitutively active mutant which has a second mutation in its effector domain abrogating effector binding (Wallace et al., 2002) (Fig. 5A and Supplementary Fig. 4B).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Wallace et al., 2002 source
It may state two separate claims as one.
Findingown dataSH3TC2 does not associate with Rab4a, Rab5a, or Rab7a.
“No association was observed with Rab4a and Rab5a (associated with early endosomes) and Rab7a (associated with late endosomes) (Supplementary Fig. 4A).”
Quote in the paperSubstantial claimIt may state two separate claims as one.
Findingown dataRab11a is prominently expressed in cultured Schwann cells and in the PNS of adult animals.
“We found that Rab11a was prominently expressed in cultured Schwann cells and in the PNS of adult animals.”
Quote in the paperSubstantial claimIt may state two separate claims as one.
PremisecitationSH3TC2 localizes to the plasma membrane and a perinuclear membranous structure corresponding to the endocytic recycling compartment.
“the gene product, SH3TC2, localizes to the perinuclear recycling compartment.”
- Also stated in: § Introduction · plain
“localizes to the plasma membrane and a perinuclear membranous structure (Arnaud et al., 2009;Lupo et al., 2009) that corresponds to the endocytic recycling compartment (Arnaud et al., 2009).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Arnaud et al., 2009;Lupo et al., 2009
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Also stated in: § Introduction · plain
Probably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationMyelin proteins undergo endocytic recycling in oligodendrocytes, which are the myelinating glia cells in the CNS.
“Finally, myelin proteins undergo endocytic recycling in oligodendrocytes (Winterstein et al., 2008), which are the myelinating glia cells in the CNS.”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Winterstein et al., 2008 source
Probably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationA crucial mechanism underlying establishment and maintenance of cellular polarity is differential sorting of proteins to distinct plasma membrane domains along the secretory and endosomal pathways.
“One crucial mechanism underlying establishment and maintenance of cellular polarity is differential sorting of proteins to distinct plasma membrane domains along the secretory and endosomal pathways (Keller et al., 2001;Kreitzer et al., 2003).”
Quote in the paperNot a substantial claim0 of 2 sources checkedProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
PremisecitationMembranes of Schwann cell microvilli contain ligands for axonal cell adhesion molecules and contribute to sodium channel clustering at the nodes of Ranvier.
“Finally, the membranes of Schwann cell microvilli contain ligands for axonal cell adhesion molecules and contribute to sodium channel clustering at the nodes of Ranvier (Eshed et al., 2005).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Eshed et al., 2005 source
Probably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationMembranes of the paranodal loops are enriched for junctional proteins that permit intra-Schwann cell junctions and Schwann cell-axon junctions.
“Membranes of the paranodal loops are enriched for junctional proteins that permit intra-Schwann cell junctions and Schwann cell-axon junctions (Fannon et al., 1995;Boyle et al., 2001).”
Quote in the paperNot a substantial claim0 of 2 sources checkedProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
PremisecitationDuring myelination, Schwann cells establish specialized microtubule networks, suggesting increased rates of vesicle transport.
“During myelination, Schwann cells establish specialized microtubule networks, suggesting increased rates of vesicle transport (Trapp et al., 1995;Kidd et al., 1996).”
Quote in the paperNot a substantial claim0 of 2 sources checkedIt may state two separate claims as one.
InterpretationreasoningThe mutated residues are all found on the surface of the protein, forming an extended Rab11-interacting domain.
“Therefore, a more likely explanation would be that the mutated residues are all found on the surface of the protein, forming an extended Rab11-interacting domain.”
Quote in the paperNot a substantial claimProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
PremisecitationThe outer (abaxonal) Schwann cell plasma membrane is specialized for extracellular interactions, while the inner (adaxonal) Schwann cell plasma membrane contains cell adhesion molecules.
“The outer (abaxonal) Schwann cell plasma membrane is specialized for extracellular interactions, while the inner (adaxonal) Schwann cell plasma membrane contains cell adhesion molecules (Previtali et al., 2001;Maurel et al., 2007;Spiegel et al, 2007).”
Quote in the paperNot a substantial claim0 of 3 sources checkedProbably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationRab11 is a key regulator of recycling pathways from endosomes to the plasma membrane.
“Rab11 is a key regulator of recycling pathways from endosomes to the plasma membrane (Ullrich et al., 1996) and consists of two isoforms, Rab11a and Rab11b, which are encoded by different genes and mainly differ in their C-termini.”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Ullrich et al., 1996 source
Probably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationRab11 is a master regulator of recycling endosome functions.
“Rab11, a master regulator of recycling endosome functions (Maxfield and McGraw, 2004)”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Maxfield and McGraw, 2004 source
Probably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationAn extended interaction domain consisting of several tetratricopeptide repeat repeats (which are contained in SH3TC2 as well) has been reported to enable p67phox to interact with Rac1, a small GTPase of the Rho family.
“An extended interaction domain consisting of several tetratricopeptide repeat repeats (which are contained in SH3TC2 as well) has been reported to enable p67phox to interact with Rac1, a small GTPase of the Rho family (Lapouge et al., 2000).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Lapouge et al., 2000 source
Probably not a substantial claim.
PremisecitationRab effectors can stabilize Rab-GTPases.
“as it has been shown that Rab effectors can stabilize Rab-GTPases (Ganley et al., 2004).”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Ganley et al., 2004 source
Probably not a substantial claim.
PremisecitationProtein transport and targeting play an important role in myelin membrane assembly.
“Several lines of evidence indicate that protein transport and targeting play an important role in myelin membrane assembly.”
Quote in the paperSubstantial claimProbably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationAssays for transferrin receptor recycling are commonly used as a paradigm to test recycling endosome functions.
“Assays for transferrin receptor recycling are commonly used as a paradigm to test recycling endosome functions (Sager et al., 1984).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Sager et al., 1984 source
Probably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationRab11-FIP4 causes a dramatic condensation of the recycling endosome.
“There is at least one known Rab11 effector, Rab11-FIP4, which causes a dramatic condensation of the recycling endosome (Wallace et al., 2002).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Wallace et al., 2002 source
Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
PremisecitationAnother article reported the SH3TC2/Rab11 interaction and a potential effect of SH3TC2 on recycling endosome function.
“During the preparation our manuscript, another article reporting the SH3TC2/Rab11 interaction and a potential effect of SH3TC2 on recycling endosome function was published (Roberts et al., 2010).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Roberts et al., 2010 source
Probably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationIn polarized epithelial cells, transfected Schwann cell proteins are distinctly transported, potentially reflecting the segregation of compact and non-compact myelin components.
“Similarly, in polarized epithelial cells, transfected Schwann cell proteins are distinctly transported, potentially reflecting the segregation of compact and non-compact myelin components (Minuk and Braun, 1996;Kroepfl and Gardinier, 2001;Maier et al., 2006).”
Quote in the paperNot a substantial claim0 of 3 sources checkedProbably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
PremisecitationMyelination requires dramatic changes in the cellular architecture of differentiating glia and a high degree of cell polarization that partitions the plasma membrane into distinct domains.
“Myelination requires dramatic changes in the cellular architecture of differentiating glia and a high degree of cell polarization that partitions the plasma membrane into distinct domains (Pfeiffer et al., 1993).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Pfeiffer et al., 1993 source
Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
PremisecitationCompact myelin in the PNS is largely composed of lipids (mainly cholesterol and sphingolipids) and exhibits narrow lamellar spacings, mediated by homophilic adhesion molecules.
“Compact myelin in the PNS is largely composed of lipids (mainly cholesterol and sphingolipids) and exhibits narrow lamellar spacings, mediated by homophilic adhesion molecules (Filbin et al., 1990).”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Filbin et al., 1990 source
Probably not a substantial claim.
PremisecitationEndosomal sorting is required for the development and maintenance of Schwann cells and the myelin sheath.
“As there is increasing evidence that the development and maintenance of Schwann cells and the myelin sheath require endosomal sorting (Trapp et al., 2004;Simons and Trotter, 2007), we decided to follow the SH3TC2/Rab11 interaction further.”
Quote in the paperSubstantial claim0 of 1 sources checked- cites Trapp et al., 2004;Simons and Trotter, 2007
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationMyelinating Schwann cells have at least five distinct membrane domains that differ in their membrane lipid and protein composition.
“Myelinating Schwann cells have at least five distinct membrane domains (Arroyo and Scherer, 2000;Simons and Trotter, 2007) that differ in their membrane lipid and protein composition.”
Quote in the paperNot a substantial claim0 of 2 sources checkedProbably not a substantial claim. The paper’s conclusions may not depend on it.
PremisecitationSorting in the trans-Golgi network partitions myelin proteins into separate transport vesicles that are targeted to distinct Schwann cell compartments.
“Sorting in the trans-Golgi network partitions myelin proteins into separate transport vesicles (Trapp et al., 1995) that are targeted to distinct Schwann cell compartments.”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites Trapp et al., 1995 source
The paper relies on this without support.
No proteins interacting with SH3TC2 had been identified before this study.
“However, no protein binding to SH3TC2 has been identified so far.”
The paper relies on this without support.
The physiological function of SH3TC2 had not yet been identified, and the pathomechanism causing impaired PNS myelination in CMT4C patients and Sh3tc2 knockout mice remained unclear.
“However, as the physiological function of the gene product, SH3TC2, has not yet been identified, the pathomechanism causing impaired PNS myelination in CMT4C patients and Sh3tc2 knockout mice has so far remained unclear.”
The paper relies on this without support.
There were no published data on Rab11 expression in the PNS.
“As there were no published data on Rab11 expression in the PNS, we studied Rab11a protein levels in Schwann cell lines, primary rat Schwann cell cultures and sciatic nerves of rat and mouse by western blotting (Fig. 3A).”
The paper relies on this without support.
The putative protein-binding motifs in SH3TC2 did not allow prediction of a bona fide interaction partner.
“as the putative protein binding motifs in SH3TC2 did not allow prediction of a bona fide interaction partner, we decided to perform an unbiased screen for interacting proteins.”
The paper relies on this without support.
Rab proteins cycle between inactive GDP-bound and active GTP-bound conformations.
“Like all GTPases, Rab proteins cycle between an inactive (guanosine diphosphatebound) and an active (GTP-bound) conformation.”
The paper relies on this without support.
The GTP-bound activated form of a Rab GTPase associates with effector molecules through which it carries out its functions.
“The GTP-bound, activated form of the GTPase associates with effector molecules through which it carries out its functions.”
The authors state this as an assumption.
Endocytic recycling may assist morphogenesis of the myelin sheath by sorting and redirecting myelin components.
“Assuming that endocytic recycling may assist morphogenesis of the myelin sheath by sorting and redirecting myelin components”
The paper relies on this without support.
Molecular pathways regulating vesicular transport during myelination have remained largely unknown.
“However, molecular pathways regulating vesicular transport during myelination have remained largely unknown.”
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
Myelination duration differs between methods and Figure 6
MinorThe methods say the Schwann cell-neuron co-cultures were induced to myelinate for 10 consecutive days, but the Figure 6 caption describes them after 12 days of myelination.
“Myelination was induced over 10 consecutive days with C-medium supplemented with 50 mg/ml ascorbic acid (Sigma).”
“(A) Immunofluorescence studies of primary rat Schwann cells/mouse dorsal root ganglion neuron co-cultures after 12 days of myelination.”
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Metadata
- Authors
- Stendel, C., Roos, A., Kleine, H., Arnaud, E., Özçelik, M., Sidiropoulos, P. N. M., Zenker, J., Schüpfer, F., Lehmann, U., Sobota, R. M., Litchfield, D. W., Lüscher, B., Chrast, R., Suter, U., & Senderek, J.
- Affiliations
- ETH Zurich (CH)
- RWTH Aachen University (DE)
- Centre Hospitalier Universitaire Vaudois (CH)
- University of Southern Denmark (DK)
- Western University (CA)
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-07-24
- Volume
- 133
- Issue
- 8
- Pages
- 2462-2474
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2150495344
- Semantic Scholar
- 70bc7cade3b8bdee6e5412858bfe471eb390536c
- Cited by
- 102
- References
- 53
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 8 · 2023: 5 · 2022: 6 · 2021: 5 · 2020: 6 · 2019: 3 · 2018: 8 · 2017: 6 · 2016: 8 · 2015: 3 · 2014: 10 · 2013: 8 · 2012: 14
- FWCI
- 3.01
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- SERVAL (Université de Lausanne) (publishedVersion, other-oa)
- reroDoc Digital Library (submittedVersion)
- IRIS (submittedVersion)
- Scholarship@Western (Western University) (submittedVersion)
- RWTH Publications (RWTH Aachen) (submittedVersion)
- Repository for Publications and Research Data (ETH Zurich) (submittedVersion, other-oa)
- ETH Zürich Research Collection
- Funders
- National Science Foundation
- Vanderbilt University
- Vanderbilt University Medical Center
- University College Cork
- Deutsche Forschungsgemeinschaft
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- RWTH Aachen University
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Health Sciences › Medicine › Clinical Neurology › Peripheral Neuropathies and Disorders
- Keywords
- SH3TC2, Charcot-Marie-Tooth disease, peripheral nerve myelination, Schwann cells, Rab11, endosomal recycling, membrane trafficking, myelination
- MeSH terms
- rab11 GTP-Binding Proteins, Animals, Carrier Proteins, Cell Line, Chlorocebus aethiops, Charcot-Marie-Tooth Disease, Ganglia, Spinal, Humans, Mutation, Myelin Sheath, Peripheral Nerves, Endosomes, Schwann Cells, Sciatic Nerve, Mice, Knockout, COS Cells, rab GTP-Binding Proteins, Intracellular Signaling Peptides and Proteins, Mice, Rats
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