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Deficiency of cathepsin D

MedGen UID:
929473
•Concept ID:
C4303804
•
Disease or Syndrome
Synonym: Cathepsin D deficiency
SNOMED CT: Deficiency of cathepsin D (720831008); Cathepsin D deficiency (720831008)

Recent clinical studies

Etiology

Peripartum Cardiomyopathy: A Review Article.
Karaye KM, Shehu MN, Ngantcha M, Bonny A, Awad AM
West Afr J Med 2023 Jan 30;40(1):104-113. PMID: 36718666
Elevated mRNA expression and defective processing of cathepsin D in HeLa cells lacking the mannose 6-phosphate pathway.
Liu L, Doray B
FEBS Open Bio 2021 Jun;11(6):1695-1703. Epub 2021 May 5 doi: 10.1002/2211-5463.13169. PMID: 33932147Free PMC Article
Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.
Valdez C, Wong YC, Schwake M, Bu G, Wszolek ZK, Krainc D
Hum Mol Genet 2017 Dec 15;26(24):4861-4872. doi: 10.1093/hmg/ddx364. PMID: 29036611Free PMC Article
Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis.
Shacka JJ, Roth KA
Autophagy 2007 Sep-Oct;3(5):474-6. Epub 2007 Apr 25 doi: 10.4161/auto.4341. PMID: 17495518
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.
Ezaki J, Kominami E
Brain Pathol 2004 Jan;14(1):77-85. doi: 10.1111/j.1750-3639.2004.tb00501.x. PMID: 14997940Free PMC Article

Diagnosis

Increased peripheral of brain-derived neurotrophic factor levels in phenylketonuric patients treated with l-carnitine.
Faverzani JL, Guerreiro G, Hammerschmidt TG, Lopes FF, Coelho DM, Sitta A, Mescka CP, Deon M, Wajner M, Vargas CR
Arch Biochem Biophys 2023 Nov;749:109792. Epub 2023 Oct 18 doi: 10.1016/j.abb.2023.109792. PMID: 37863349
Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.
Jacques CED, Guerreiro G, Lopes FF, de Souza CFM, Giugliani R, Vargas CR
Cell Biochem Biophys 2023 Sep;81(3):533-542. Epub 2023 Jul 20 doi: 10.1007/s12013-023-01149-w. PMID: 37470932
Involvement of CASP9 (caspase 9) in IGF2R/CI-MPR endosomal transport.
Han J, Goldstein LA, Hou W, Watkins SC, Rabinowich H
Autophagy 2021 Jun;17(6):1393-1409. Epub 2020 May 25 doi: 10.1080/15548627.2020.1761742. PMID: 32397873Free PMC Article
Presynaptic Endosomal Cathepsin D Regulates the Biogenesis of GABAergic Synaptic Vesicles.
Li X, Qin L, Li Y, Yu H, Zhang Z, Tao C, Liu Y, Xue Y, Zhang X, Xu Z, Wang Y, Lou H, Tan Z, Saftig P, Chen Z, Xu T, Bi G, Duan S, Gao Z
Cell Rep 2019 Jul 23;28(4):1015-1028.e5. doi: 10.1016/j.celrep.2019.06.006. PMID: 31340140
Metabolic epilepsies: approaches to a diagnostic challenge.
Stöckler-Ipsiroglu S, Plecko B
Can J Neurol Sci 2009 Aug;36 Suppl 2:S67-72. PMID: 19760908

Therapy

Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.
Jacques CED, Guerreiro G, Lopes FF, de Souza CFM, Giugliani R, Vargas CR
Cell Biochem Biophys 2023 Sep;81(3):533-542. Epub 2023 Jul 20 doi: 10.1007/s12013-023-01149-w. PMID: 37470932
Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis.
Marques ARA, Di Spiezio A, Thießen N, Schmidt L, Grötzinger J, Lüllmann-Rauch R, Damme M, Storck SE, Pietrzik CU, Fogh J, Bär J, Mikhaylova M, Glatzel M, Bassal M, Bartsch U, Saftig P
Autophagy 2020 May;16(5):811-825. Epub 2019 Jul 16 doi: 10.1080/15548627.2019.1637200. PMID: 31282275Free PMC Article
The critical role of Nramp1 in degrading α-synuclein oligomers in microglia under iron overload condition.
Wu KC, Liou HH, Kao YH, Lee CY, Lin CJ
Neurobiol Dis 2017 Aug;104:61-72. Epub 2017 May 2 doi: 10.1016/j.nbd.2017.05.001. PMID: 28476637
BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.
Tatti M, Motta M, Scarpa S, Di Bartolomeo S, Cianfanelli V, Tartaglia M, Salvioli R
Hum Mol Genet 2015 Aug 1;24(15):4198-211. Epub 2015 Apr 29 doi: 10.1093/hmg/ddv153. PMID: 25926625
IGFs and human cancer: implications regarding the risk of growth hormone therapy.
Shim M, Cohen P
Horm Res 1999;51 Suppl 3:42-51. doi: 10.1159/000053161. PMID: 10592443

Prognosis

Cathepsin D deficiency in mammary epithelium transiently stalls breast cancer by interference with mTORC1 signaling.
Ketterer S, Mitschke J, Ketscher A, Schlimpert M, Reichardt W, Baeuerle N, Hess ME, Metzger P, Boerries M, Peters C, Kammerer B, Brummer T, Steinberg F, Reinheckel T
Nat Commun 2020 Oct 12;11(1):5133. doi: 10.1038/s41467-020-18935-2. PMID: 33046706Free PMC Article
SPRED2 deficiency elicits cardiac arrhythmias and premature death via impaired autophagy.
Ullrich M, Aßmus B, Augustin AM, Häbich H, Abeßer M, Martin Machado J, Werner F, Erkens R, Arias-Loza AP, Umbenhauer S, Wagner H, Benz PM, Unger A, Linke WA, Frantz S, Baba HA, Kuhn M, Schuh K
J Mol Cell Cardiol 2019 Apr;129:13-26. Epub 2019 Feb 13 doi: 10.1016/j.yjmcc.2019.01.023. PMID: 30771306
Cathepsin D deficiency induces cytoskeletal changes and affects cell migration pathways in the brain.
Koch S, Scifo E, Rokka A, Trippner P, Lindfors M, Korhonen R, Corthals GL, Virtanen I, Lalowski M, Tyynelä J
Neurobiol Dis 2013 Feb;50:107-19. Epub 2012 Oct 12 doi: 10.1016/j.nbd.2012.10.004. PMID: 23069676
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.
Vitner EB, Dekel H, Zigdon H, Shachar T, Farfel-Becker T, Eilam R, Karlsson S, Futerman AH
Hum Mol Genet 2010 Sep 15;19(18):3583-90. Epub 2010 Jul 8 doi: 10.1093/hmg/ddq273. PMID: 20616152
Metabolic epilepsies: approaches to a diagnostic challenge.
Stöckler-Ipsiroglu S, Plecko B
Can J Neurol Sci 2009 Aug;36 Suppl 2:S67-72. PMID: 19760908

Clinical prediction guides

The E3 ubiquitin ligase TRIM31 attenuates NLRP3 inflammasome activation in Helicobacter pylori-associated gastritis by regulating ROS and autophagy.
Yu Q, Shi H, Ding Z, Wang Z, Yao H, Lin R
Cell Commun Signal 2023 Jan 3;21(1):1. doi: 10.1186/s12964-022-00954-9. PMID: 36597090Free PMC Article
ATM loss disrupts the autophagy-lysosomal pathway.
Cheng A, Tse KH, Chow HM, Gan Y, Song X, Ma F, Qian YXY, She W, Herrup K
Autophagy 2021 Aug;17(8):1998-2010. Epub 2020 Aug 14 doi: 10.1080/15548627.2020.1805860. PMID: 32757690Free PMC Article
Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy.
Follo C, Ozzano M, Montalenti C, Santoro MM, Isidoro C
Biosci Rep 2013 Apr 4;33(2):e00034. doi: 10.1042/BSR20120100. PMID: 23464837Free PMC Article
Cathepsin-mediated regulation of autophagy in saposin C deficiency.
Tatti M, Motta M, Di Bartolomeo S, Cianfanelli V, Salvioli R
Autophagy 2013 Feb 1;9(2):241-3. Epub 2012 Oct 29 doi: 10.4161/auto.22557. PMID: 23108186Free PMC Article
Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis.
Shacka JJ, Roth KA
Autophagy 2007 Sep-Oct;3(5):474-6. Epub 2007 Apr 25 doi: 10.4161/auto.4341. PMID: 17495518

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