Pathways Knowlegdes

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Pathway DOIs Note
Progeria-associated lipodystrophy

Accession ID: WikiPathways:WP5103
  • 10.1038/s41467-019-13167-5
 Bolderson E, Burgess JT, Li J, Gandhi NS, Boucher D, Croft LV, Beard S, Plowman JJ, Suraweera A, Adams MN, Naqi A, Zhang S, Sinclair DA, O’Byrne KJ, Richard DJ. Barrier-to-autointegration factor 1 (Banf1) regulates poly [ADP-ribose] polymerase 1 (PARP1) activity following oxidative DNA damage. Nature Communications. 2019 Dec 03;10(1):5501. doi: 10.1038/s41467-019-13167-5.
Amino acid transport defects (IEMs)

Accession ID: WikiPathways:WP5029
  • 10.1523/jneurosci.14-09-05559.1994
 Arriza J, Fairman W, Wadiche J, Murdoch G, Kavanaugh M, Amara S. Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex. J. Neurosci. 1994 Sep 01;14(9):5559–69. doi: 10.1523/jneurosci.14-09-05559.1994.
Gamma-glutamyl cycle for the biosynthesis and degradation of glutathione, including diseases

Accession ID: WikiPathways:WP4518
  • 10.1007/bf00711529
 Henderson MJ, Larsson A, Carlsson B, Dear PR. 5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder. J Inherit Metab Dis. 1993;16(6):1051–2. doi: 10.1007/bf00711529. PMID: 8127060.
Familial partial lipodystrophy

Accession ID: WikiPathways:WP5102
  • 10.14814/phy2.13247
 Townsend LK, Knuth CM, Wright DC. Cycling our way to fit fat. Physiol Rep. 2017 Apr;5(7). PMID: 28404813; PMCID: PMC5392531.
mRNA, protein, and metabolite inducation pathway by cyclosporin A

Accession ID: WikiPathways:WP3953
  • 10.1016/j.jprot.2012.11.022
 Wilmes A, Limonciel A, Aschauer L, Moenks K, Bielow C, Leonard MO, Hamon J, Carpi D, Ruzek S, Handler A, Schmal O, Herrgen K, Bellwon P, Burek C, Truisi GL, Hewitt P, Di Consiglio E, Testai E, Blaauboer BJ, Guillou C, Huber CG, Lukas A, Pfaller W, Mueller SO, Bois FY, Dekant W, Jennings P. Application of integrated transcriptomic, proteomic and metabolomic profiling for the delineation of mechanisms of drug induced cell stress. J Proteomics. 2013 Feb 21;79():180–94. doi: 10.1016/j.jprot.2012.11.022. PMID: 23238060.
Metabolic Epileptic Disorders

Accession ID: WikiPathways:WP5355
  • 10.1038/s41418-020-0491-6
 Tan M, Mosaoa R, Graham GT, Kasprzyk-Pawelec A, Gadre S, Parasido E, Catalina-Rodriguez O, Foley P, Giaccone G, Cheema A, Kallakury B, Albanese C, Yi C, Avantaggiati ML. Inhibition of the mitochondrial citrate carrier, Slc25a1, reverts steatosis, glucose intolerance, and inflammation in preclinical models of NAFLD/NASH. Cell Death & Differentiation. 2020 Jan 20;27(7):2143–57. doi: 10.1038/s41418-020-0491-6.
Methionine metabolism leading to sulfur amino acids and related disorders

Accession ID: WikiPathways:WP4292
  • 10.1007/s10545-005-4497-5
 Linnebank M, Lagler F, Muntau AC, Röschinger W, Olgemöller B, Fowler B, Koch HG. Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. J Inherit Metab Dis. 2005;28(6):1167–8. doi: 10.1007/s10545-005-4497-5. PMID: 16435220.
Acquired partial lipodystrophy / Barraquer-Simons syndrome

Accession ID: WikiPathways:WP5104		 - Gao J, Liao J, Yang GY. CAAX-box protein, prenylation process and carcinogenesis. Am J Transl Res. 2009 May 25;1(3):312–25. PMID: 19956441; PMCID: PMC2776320.
Ferroptosis

Accession ID: WikiPathways:WP4313
  • 10.3389/fnins.2018.00466
 Abdalkader M, Lampinen R, Kanninen KM, Malm TM, Liddell JR. Targeting Nrf2 to Suppress Ferroptosis and Mitochondrial Dysfunction in Neurodegeneration. Front. Neurosci. 2018 Jul 10;12(). doi: 10.3389/fnins.2018.00466.
Ethylmalonic encephalopathy

Accession ID: WikiPathways:WP5030
  • 10.1007/s10545-010-9227-y
 Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. J Inherit Metab Dis. 2010 Dec;33 Suppl 3():S443–53. doi: 10.1007/s10545-010-9227-y. PMID: 20978941.
Sulfate assimilation and copper detoxification

Accession ID: WikiPathways:WP4173		 -
Lamin A-processing pathway

Accession ID: WikiPathways:WP4299
  • 10.1007/s00018-007-7123-x
 Cox LS, Faragher RGA. From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing. Cellular and Molecular Life Sciences. 2007 Jul 30;64(19-20):2620. doi: 10.1007/s00018-007-7123-x.