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actions-user committed Apr 23, 2024
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74 changes: 37 additions & 37 deletions _data/WP4856-datanodes.tsv
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4 changes: 2 additions & 2 deletions _data/WP5420-datanodes.tsv
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Expand Up @@ -271,7 +271,7 @@ FMN Metabolite chebi:cHEBI:58210 ""
cob(II)alamin Metabolite chebi:16304 "Should be cob(II)alamin according to literature" wikidata:Q27101840 chebi:16304;chebi:16304 inchikey:ASARMUCNOOHMLO-DSRCUDDDSA-L
FMN Metabolite chebi:cHEBI:58210 ""
Cbl Metabolite chebi:23334 "" wikidata:Q71272629 chebi:23334;chebi:23334
cobalamins Metabolite wikidata:23334 ""
cobalamins Metabolite chebi:23334 "" wikidata:Q71272629 chebi:23334;chebi:23334
Cbl Metabolite chebi:23334 "" wikidata:Q71272629 chebi:23334;chebi:23334
Cbl Metabolite chebi:23334 "" wikidata:Q71272629 chebi:23334;chebi:23334
Cbl Metabolite chebi:23334 "" wikidata:Q71272629 chebi:23334;chebi:23334
Expand Down Expand Up @@ -494,7 +494,7 @@ SCN2A Protein uniprot:Q99250 "" ensembl:ENSG00000136531 ncbigene:6326 hgnc.symbo
TP53 Protein dbsnp:P04637 ""
RHOA Protein uniprot:P61586 "" ensembl:ENSG00000067560 ncbigene:387 hgnc.symbol:RHOA uniprot:P61586;uniprot:A0A7I2V5E6;uniprot:C9JNR4;uniprot:A0A024R324;uniprot:A0A7I2YQV1;uniprot:C9JRM1;uniprot:A0A7I2V3G1;uniprot:C9JX21
INSR Protein uniprot:P06213 "" ensembl:ENSG00000171105 ncbigene:3643 hgnc.symbol:INSR uniprot:M0R3E6;uniprot:P06213
NGLY1 Protein "PNG hydrolase, PNGH</br>Type your comment here"
NGLY1 Protein uniprot:Q96IV0 "PNG hydrolase, PNGH</br>Type your comment here" ensembl:ENSG00000151092 ncbigene:55768 hgnc.symbol:NGLY1 uniprot:A0A0C4DFP4;uniprot:A0A6Q8PHJ3;uniprot:C9JU75;uniprot:A0A6Q8PF23;uniprot:A0A6Q8PHH7;uniprot:A0A6Q8PFQ1;uniprot:Q96IV0;uniprot:A0A6Q8PGC8;uniprot:H0Y2P2
ALPI Protein uniprot:P09923 "Intestinal-type alkaline phosphatase</br>Type your comment here" ensembl:ENSG00000163295 ncbigene:248 hgnc.symbol:ALPI uniprot:P09923;uniprot:A0A024R4A2;uniprot:F8WEQ0
RHEB Protein uniprot:Q15382 "" ensembl:ENSG00000106615 ncbigene:6009 hgnc.symbol:RHEB uniprot:F8WBL3;uniprot:Q15382;uniprot:A0A090N900;uniprot:C9J469;uniprot:C9J931
AOX1 Protein uniprot:Q06278 "Aldehyde oxidase</br>Type your comment here" ensembl:ENSG00000138356 ncbigene:316 hgnc.symbol:AOX1 uniprot:C9J244;uniprot:Q06278;uniprot:H7BXF7;uniprot:H7C3Q1
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12 changes: 12 additions & 0 deletions _data/WP5443-bibliography.tsv
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@@ -0,0 +1,12 @@
ID Database Citation
17215403 Pubmed "Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. Baloh RH, Schmidt RE, Pestronk A, Milbrandt J. J Neurosci. 2007 Jan 10;27(2):422–30. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/17215403"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/17215403"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/17215403"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
20335458 Pubmed "Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex. Misko A, Jiang S, Wegorzewska I, Milbrandt J, Baloh RH. J Neurosci. 2010 Mar 24;30(12):4232–40. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/20335458"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/20335458"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/20335458"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
22232700 Pubmed "Axon degeneration: molecular mechanisms of a self-destruction pathway. Wang JT, Medress ZA, Barres BA. J Cell Biol. 2012 Jan 9;196(1):7–18. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/22232700"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/22232700"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/22232700"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
22442078 Pubmed "Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration. Misko AL, Sasaki Y, Tuck E, Milbrandt J, Baloh RH. J Neurosci. 2012 Mar 21;32(12):4145–55. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/22442078"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/22442078"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/22442078"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
27506976 Pubmed "Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons. Rizzo F, Ronchi D, Salani S, Nizzardo M, Fortunato F, Bordoni A, et al. Hum Mol Genet. 2016 Oct 1;25(19):4266–81. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/27506976"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/27506976"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/27506976"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
27535796 Pubmed "Mfn2 is Required for Mitochondrial Development and Synapse Formation in Human Induced Pluripotent Stem Cells/hiPSC Derived Cortical Neurons. Fang D, Yan S, Yu Q, Chen D, Yan SS. Sci Rep. 2016 Aug 18;6:31462. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/27535796"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/27535796"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/27535796"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
29068134 Pubmed "Structure, function, and regulation of mitofusin-2 in health and disease. Chandhok G, Lazarou M, Neumann B. Biol Rev Camb Philos Soc. 2018 May;93(2):933–49. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/29068134"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/29068134"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/29068134"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
30590907 Pubmed "The Interface Between ER and Mitochondria: Molecular Compositions and Functions. Lee S, Min KT. Mol Cells. 2018 Dec 31;41(12):1000–7. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/30590907"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/30590907"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/30590907"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
30649465 Pubmed "MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics. Larrea D, Pera M, Gonnelli A, Quintana-Cabrera R, Akman HO, Guardia-Laguarta C, et al. Hum Mol Genet. 2019 Jun 1;28(11):1782–800. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/30649465"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/30649465"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/30649465"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
34602978 Pubmed "MFN2 Deficiency Impairs Mitochondrial Transport and Downregulates Motor Protein Expression in Human Spinal Motor Neurons. Mou Y, Dein J, Chen Z, Jagdale M, Li XJ. Front Mol Neurosci. 2021 Sep 16;14:727552. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/34602978"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/34602978"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/34602978"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
36993604 Pubmed "MFN2-dependent recruitment of ATAT1 coordinates mitochondria motility with alpha-tubulin acetylation and is disrupted in CMT2A. Kumar A, Larrea D, Pero ME, Infante P, Conenna M, Shin GJE, et al. bioRxiv. 2023 Mar 16;2023.03.15.532838. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/36993604"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/36993604"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/36993604"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
31 changes: 31 additions & 0 deletions _data/WP5443-datanodes.tsv
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@@ -0,0 +1,31 @@
Label Type Identifier Comment Ensembl NCBI gene HGNC UniProt Wikidata ChEBI InChI
Phospholipase D Metabolite wikidata:Q700007 "" wikidata:Q700007
ATP Metabolite chebi:30616 "" wikidata:Q27113900 chebi:30616;chebi:30616 inchikey:ZKHQWZAMYRWXGA-KQYNXXCUSA-J
Na+ Metabolite chebi:29101 "" wikidata:Q3154110 chebi:29101;chebi:29101 inchikey:FKNQFGJONOIPTF-UHFFFAOYSA-N
Ca2+ Metabolite chebi:29108 "" wikidata:Q23905776 chebi:29108;chebi:29108 inchikey:BHPQYMZQTOCNFJ-UHFFFAOYSA-N
Cardiolipins Metabolite chebi:28494 "" wikidata:Q183453 chebi:28494;chebi:28494
Phosphatidic acids Metabolite chebi:16337 "" wikidata:Q66000256 chebi:16337;chebi:16337
TRAK1 GeneProduct ensembl:ENSG00000182606 "" ensembl:ENSG00000182606 ncbigene:22906 hgnc.symbol:TRAK1 uniprot:C9JC32;uniprot:Q9UPV9;uniprot:A0A087X0N0;uniprot:A0A0D9SGH2;uniprot:A0A0D9SFL5;uniprot:A0A5F9ZI06;uniprot:F8WDH2;uniprot:H7C3T3;uniprot:A0A5F9ZH95
DYNC1H1 GeneProduct ensembl:ENSG00000197102 "" ensembl:ENSG00000197102 ncbigene:1778 hgnc.symbol:DYNC1H1 uniprot:A0A7P0T8N2;uniprot:A0A7P0TB96;uniprot:A0A7P0T916;uniprot:A0A2R8YFZ7;uniprot:A0A7P0T9R4;uniprot:A0A7P0TBC9;uniprot:A0A2R8Y6H2;uniprot:A0A7P0T934;uniprot:A0A7P0T9F1;uniprot:A0A7P0TA13;uniprot:A0A7P0TAV5;uniprot:A0A7P0TB75;uniprot:A0A2R8Y5T0;uniprot:A0A7P0TAM4;uniprot:A0A7P0T9C4;uniprot:A0A7P0T7V5;uniprot:A0A2R8YGC7;uniprot:A0A7P0T990;uniprot:A0A2R8Y706;uniprot:A0A7P0T9S3;uniprot:A0A7P0T825;uniprot:Q14204;uniprot:A0A7P0TAS7;uniprot:A0A7P0T9K2;uniprot:A0A7P0TAW9;uniprot:A0A7P0TB64;uniprot:A0A7P0TAF3;uniprot:A0A7P0TBJ7;uniprot:A0A7P0T942;uniprot:A0A804HHY6;uniprot:A0A7P0T8W5;uniprot:A0A7P0T9Y3
RAB3B GeneProduct ensembl:ENSG00000169213 "" ensembl:ENSG00000169213 ncbigene:5865 hgnc.symbol:RAB3B uniprot:P20337
RAB3A GeneProduct ensembl:ENSG00000105649 "" ensembl:ENSG00000105649 ncbigene:5864 hgnc.symbol:RAB3A uniprot:M0R257;uniprot:A0A024R7I7;uniprot:P20336;uniprot:S4R3Q3
BAX GeneProduct ensembl:ENSG00000087088 "" ensembl:ENSG00000087088 ncbigene:581 hgnc.symbol:BAX uniprot:Q07812;uniprot:H0YA56;uniprot:I6LPK7
DYNC1I1 GeneProduct ensembl:ENSG00000158560 "" ensembl:ENSG00000158560 ncbigene:1780 hgnc.symbol:DYNC1I1 uniprot:A4D1I7;uniprot:E5RJ75;uniprot:A0A0A0MTG2;uniprot:C9J3E7;uniprot:E5RFE1;uniprot:O14576
RABAC1 GeneProduct ensembl:ENSG00000105404 "" ensembl:ENSG00000105404 ncbigene:10567 hgnc.symbol:RABAC1 uniprot:M0QXH1;uniprot:M0R1H9;uniprot:M0R3D4;uniprot:Q9UI14;uniprot:M0QXU8
KIF1B GeneProduct ensembl:ENSG00000054523 "" ensembl:ENSG00000054523 ncbigene:23095 hgnc.symbol:KIF1B uniprot:A0A0U1RQL3;uniprot:O60333;uniprot:Q4R9M9;uniprot:A0A087WWA3
CASP8 GeneProduct ensembl:ENSG00000064012 "" ensembl:ENSG00000064012 ncbigene:841 hgnc.symbol:CASP8 uniprot:F8WF39;uniprot:A0A024R3Z8;uniprot:E7EQ01;uniprot:C9JB29;uniprot:E7EQ06;uniprot:E7ETB7;uniprot:E7EVN1;uniprot:H7C0E2;uniprot:Q14790
SNCA GeneProduct ensembl:ENSG00000145335 "" ensembl:ENSG00000145335 ncbigene:6622 hgnc.symbol:SNCA uniprot:P37840;uniprot:H6UYS5;uniprot:D6RA31;uniprot:E7EPV7;uniprot:H6UYS7;uniprot:A0A669KB41;uniprot:A0A669KBH5;uniprot:H6UYS0
DYNC1LI2 GeneProduct ensembl:ENSG00000135720 "" ensembl:ENSG00000135720 ncbigene:1783 hgnc.symbol:DYNC1LI2 uniprot:A0A024R6Z0;uniprot:J3KRI4;uniprot:O43237;uniprot:J3QKK5;uniprot:J3KSD2;uniprot:B4E2E0;uniprot:H3BUM4;uniprot:H3BU48;uniprot:J3KRZ2
ATAT1 GeneProduct ensembl:ENSG00000137343 "" ensembl:ENSG00000137343 ncbigene:79969 hgnc.symbol:ATAT1 uniprot:Q5SQI0;uniprot:A0A1U9X797
RAB7A GeneProduct ensembl:ENSG00000075785 "" ensembl:ENSG00000075785 ncbigene:7879 hgnc.symbol:RAB7A uniprot:C9IZZ0;uniprot:P51149;uniprot:C9J7D1;uniprot:A0A158RFU6;uniprot:C9J4V0;uniprot:C9J592;uniprot:A0A6Q8PG52;uniprot:A0A6Q8PH84;uniprot:A0A6Q8PF79;uniprot:A0A6Q8PGE6;uniprot:C9J4S4;uniprot:C9J8S3
SYPL1 GeneProduct ensembl:ENSG00000008282 "" ensembl:ENSG00000008282 ncbigene:6856 hgnc.symbol:SYPL1 uniprot:A0A0U1RQT9;uniprot:A4D0R1;uniprot:C9JYN0;uniprot:H7C4J8;uniprot:Q16563
DYNC2H1 GeneProduct ensembl:ENSG00000187240 "" ensembl:ENSG00000187240 ncbigene:79659 hgnc.symbol:DYNC2H1 uniprot:H0YDE0;uniprot:H0YEX1;uniprot:A0A3B3ISP9;uniprot:Q8NCM8;uniprot:A0A3B3IT36
CASP3 GeneProduct ensembl:ENSG00000164305 "" ensembl:ENSG00000164305 ncbigene:836 hgnc.symbol:CASP3 uniprot:A8MVM1;uniprot:C9JXR7;uniprot:P42574
DYNC2I1 GeneProduct ensembl:ENSG00000126870 "" ensembl:ENSG00000126870 ncbigene:55112 hgnc.symbol:DYNC2I1 uniprot:H7BYQ2;uniprot:H7C1E8;uniprot:A0A140VK66;uniprot:H7C022;uniprot:Q8WVS4
RHOT1 GeneProduct ensembl:ENSG00000126858 "" ensembl:ENSG00000126858 ncbigene:55288 hgnc.symbol:RHOT1 uniprot:J3QLG2;uniprot:K7EIQ7;uniprot:A0A2R8Y4I2;uniprot:K7EP86;uniprot:J3KRG7;uniprot:H7BXZ6;uniprot:A0A494C061;uniprot:J3KSR5;uniprot:J3QSG2;uniprot:Q8IXI2
MFN2 GeneProduct ensembl:ENSG00000116688 "" ensembl:ENSG00000116688 ncbigene:9927 hgnc.symbol:MFN2 uniprot:A0A6Q8PFJ4;uniprot:A0A6Q8PH07;uniprot:A0A6Q8PGA3;uniprot:A0A6Q8PGV8;uniprot:A0A6Q8PFT5;uniprot:A0A6Q8PGR2;uniprot:Q5JXC5;uniprot:A0A6Q8PGS9;uniprot:O95140
DYNC2I2 GeneProduct ensembl:ENSG00000119333 "" ensembl:ENSG00000119333 ncbigene:89891 hgnc.symbol:DYNC2I2 uniprot:A2A3F8;uniprot:Q96EX3
TUBB3 GeneProduct ensembl:ENSG00000258947 "" ensembl:ENSG00000258947 ncbigene:10381 hgnc.symbol:TUBB3 uniprot:G3V3J6;uniprot:G3V5W4;uniprot:G3V4U2;uniprot:G3V2A3;uniprot:G3V3W7;uniprot:G3V542;uniprot:G3V3R4;uniprot:G3V2R8;uniprot:G3V2N6;uniprot:Q13509
MAP2 GeneProduct ensembl:ENSG00000078018 "" ensembl:ENSG00000078018 ncbigene:4133 hgnc.symbol:MAP2 uniprot:A0A024R409;uniprot:P11137;uniprot:A8MZ31;uniprot:A0A669KB77;uniprot:H7BZB9;uniprot:E7EV03;uniprot:A0A024R3Z1
TP53 GeneProduct ensembl:ENSG00000141510 "" ensembl:ENSG00000141510 ncbigene:7157 hgnc.symbol:TP53 uniprot:E9PFT5;uniprot:A0A087WXZ1;uniprot:P04637;uniprot:A0A087X1Q1;uniprot:E7ESS1;uniprot:E7EMR6;uniprot:E7EQX7;uniprot:A0A0U1RQC9;uniprot:J3KP33;uniprot:H2EHT1;uniprot:I3L0W9;uniprot:K7PPA8;uniprot:S4R334;uniprot:A0A087WT22;uniprot:E9PCY9
DCTN1 GeneProduct ensembl:ENSG00000204843 "" ensembl:ENSG00000204843 ncbigene:1639 hgnc.symbol:DCTN1 uniprot:C9JJN7;uniprot:C9JZA4;uniprot:Q14203;uniprot:C9JKG6;uniprot:Q6AWB1;uniprot:C9JJD0;uniprot:A0A7P0Z4C3;uniprot:C9JTE5;uniprot:C9JUI8;uniprot:E7EX90;uniprot:E9PCY0;uniprot:A0A804CDA6;uniprot:C9J1B7
38 changes: 24 additions & 14 deletions _pathways/WP4856.md
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@@ -1,24 +1,34 @@
---
annotations:
- id: PW:0002395
parent: regulatory pathway
type: Pathway Ontology
value: cellular trafficking cycle pathway
- id: DOID:10595
type: Disease Ontology
value: Charcot-Marie-Tooth disease
- id: DOID:863
type: Disease Ontology
value: nervous system disease
- id: DOID:630
parent: genetic disease
type: Disease Ontology
value: genetic disease
- id: DOID:863
type: Disease Ontology
value: nervous system disease
- id: CL:0000540
parent: animal cell
type: Cell Type Ontology
value: neuron
- id: PW:0002395
parent: regulatory pathway
type: Pathway Ontology
value: cellular trafficking cycle pathway
- id: CL:0002573
parent: animal cell
type: Cell Type Ontology
value: Schwann cell
authors:
- Khanspers
- Eweitz
citedin: ''
communities:
- Diseases
description: Charcot-Marie-Tooth (CMT) disease is one of the most common inherited
description: 'Charcot-Marie-Tooth (CMT) disease is one of the most common inherited
peripheral neuropathies. This peripheral neuropathy is highly heterogeneous (clinically
and genetically) and is characterized by a slowly progressive degeneration of the
muscle of the foot, lower leg, hand and forearm, accompanied by sensory loss in
Expand All @@ -36,24 +46,24 @@ description: Charcot-Marie-Tooth (CMT) disease is one of the most common inherit
actin filaments. FGD4 associates with and regulates actin filaments. MFN2 and GDAP
regulate mitochondrial dynamics and mitochondrial axonal transport. This pathway
is based on figure 4 and table 1 from [http://europepmc.org/article/PMC/3514635
Bucci et al]. Description adapted from the figure legend and abstract.
last-edited: 2020-11-09
Bucci et al]. Description adapted from the figure legend and abstract. '
last-edited: 2024-04-23
ndex: 0fb47ef3-8b6f-11eb-9e72-0ac135e8bacf
organisms:
- Homo sapiens
redirect_from:
- /index.php/Pathway:WP4856
- /instance/WP4856
- /instance/WP4856_r113654
revision: r113654
- /instance/WP4856_r129467
revision: r129467
schema-jsonld:
- '@context': https://schema.org/
'@id': https://wikipathways.github.io/pathways/WP4856.html
'@type': Dataset
creator:
'@type': Organization
name: WikiPathways
description: Charcot-Marie-Tooth (CMT) disease is one of the most common inherited
description: 'Charcot-Marie-Tooth (CMT) disease is one of the most common inherited
peripheral neuropathies. This peripheral neuropathy is highly heterogeneous (clinically
and genetically) and is characterized by a slowly progressive degeneration of
the muscle of the foot, lower leg, hand and forearm, accompanied by sensory loss
Expand All @@ -71,7 +81,7 @@ schema-jsonld:
and actin filaments. FGD4 associates with and regulates actin filaments. MFN2
and GDAP regulate mitochondrial dynamics and mitochondrial axonal transport. This
pathway is based on figure 4 and table 1 from [http://europepmc.org/article/PMC/3514635
Bucci et al]. Description adapted from the figure legend and abstract.
Bucci et al]. Description adapted from the figure legend and abstract. '
keywords:
- DNM2
- EGR2
Expand Down
10 changes: 5 additions & 5 deletions _pathways/WP5353.md
View file
Expand Up @@ -20,15 +20,15 @@ authors:
citedin: ''
communities: []
description: A network map of macrophage-stimulating protein (MSP) signaling
last-edited: 2024-02-05
last-edited: 2024-04-23
ndex: null
organisms:
- Homo sapiens
redirect_from:
- /index.php/Pathway:WP5353
- /instance/WP5353
- /instance/WP5353_r128417
revision: r128417
- /instance/WP5353_r129458
revision: r129458
schema-jsonld:
- '@context': https://schema.org/
'@id': https://wikipathways.github.io/pathways/WP5353.html
Expand Down Expand Up @@ -159,8 +159,8 @@ schema-jsonld:
- rh-MST1
- sf-MST1R
license: CC0
name: Macrophage-stimulating protein (MSP) signaling network map
name: Macrophage-stimulating protein (MSP) signaling
seo: CreativeWork
title: Macrophage-stimulating protein (MSP) signaling network map
title: Macrophage-stimulating protein (MSP) signaling
wpid: WP5353
---

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