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NPC1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3GKH, 3GKI, 3GKJ, 5F1B, 5F18, 5HNS, 3JD8, 5I31, 5JNX
Identifikatori
Aliasi	NPC1
Vanjski ID-jevi	OMIM: 607623 MGI: 1097712 HomoloGene: 228 GeneCards: NPC1
Lokacija gena (čovjek)
Hrom.	Hromosom 18 (čovjek)
Kraj	23,586,506 bp
Lokacija gena (miš)
Hrom.	Hromosom 18 (miš)
Kraj	12,369,457 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• virus receptor activity; • lipid transporter activity; • sterol transporter activity; • cholesterol binding; • GO:0001948, GO:0016582 vezivanje za proteine; • transmembrane signaling receptor activity; • signaling receptor activity;
Ćelijska komponenta	• integral component of membrane; • Vezikula; • endozom; • Golđijev aparat; • nuclear envelope; • membrana; • late endosome membrane; • ćelijska membrana; • integral component of plasma membrane; • extracellular region; • Endoplazmatski retikulum; • perinuklearno područje citoplazme; • Lipidni splav; • Lizozom; • Egzosom; • lysosomal membrane; • integral component of lysosomal membrane;
Biološki proces	• cellular response to steroid hormone stimulus; • steroid metabolic process; • response to cadmium ion; • Endocitoza; • negative regulation of macroautophagy; • lipid metabolism; • bile acid metabolic process; • cholesterol transport; • establishment of protein localization to membrane; • cellular response to low-density lipoprotein particle stimulus; • cholesterol metabolic process; • negative regulation of cell death; • Autofagija; • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation; • membrane raft organization; • cholesterol efflux; • lysosomal transport; • viral entry into host cell; • cholesterol homeostasis; • GO:0022415 viral process; • adult walking behavior; • GO:0072468 Transdukcija signala; • low-density lipoprotein particle clearance; • intracellular cholesterol transport; • lipid transport;
	Izvori:Amigo / QuickGO
Ortolozi
	4864
	18145
	ENSG00000141458
	ENSMUSG00000024413
	O15118
	O35604
	NM_000271
	NM_008720
	NP_000262
	NP_032746
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Niemann-Pickova bolest tip C1 (NPC1) je bolest membranskog proteina koji kod sisara posreduje u unutarćelijsom prometu holesterola. Kod ljudi protein je kodiran genom NPC1, sa pozicijom 18q11.^[5]^[6]

Dužina polipeptidnog lanca je 1.278 aminokiselina, sa molekulsom težinom od 142.167^[7].

Aminokiselinska sekvenca

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
MTARGLALGL	LLLLLCPAQV	FSQSCVWYGE	CGIAYGDKRY	NCEYSGPPKP
LPKDGYDLVQ	ELCPGFFFGN	VSLCCDVRQL	QTLKDNLQLP	LQFLSRCPSC
FYNLLNLFCE	LTCSPRQSQF	LNVTATEDYV	DPVTNQTKTN	VKELQYYVGQ
SFANAMYNAC	RDVEAPSSND	KALGLLCGKD	ADACNATNWI	EYMFNKDNGQ
APFTITPVFS	DFPVHGMEPM	NNATKGCDES	VDEVTAPCSC	QDCSIVCGPK
PQPPPPPAPW	TILGLDAMYV	IMWITYMAFL	LVFFGAFFAV	WCYRKRYFVS
EYTPIDSNIA	FSVNASDKGE	ASCCDPVSAA	FEGCLRRLFT	RWGSFCVRNP
GCVIFFSLVF	ITACSSGLVF	VRVTTNPVDL	WSAPSSQARL	EKEYFDQHFG
PFFRTEQLII	RAPLTDKHIY	QPYPSGADVP	FGPPLDIQIL	HQVLDLQIAI
ENITASYDNE	TVTLQDICLA	PLSPYNTNCT	ILSVLNYFQN	SHSVLDHKKG
DDFFVYADYH	THFLYCVRAP	ASLNDTSLLH	DPCLGTFGGP	VFPWLVLGGY
DDQNYNNATA	LVITFPVNNY	YNDTEKLQRA	QAWEKEFINF	VKNYKNPNLT
ISFTAERSIE	DELNRESDSD	VFTVVISYAI	MFLYISLALG	HMKSCRRLLV
DSKVSLGIAG	ILIVLSSVAC	SLGVFSYIGL	PLTLIVIEVI	PFLVLAVGVD
NIFILVQAYQ	RDERLQGETL	DQQLGRVLGE	VAPSMFLSSF	SETVAFFLGA
LSVMPAVHTF	SLFAGLAVFI	DFLLQITCFV	SLLGLDIKRQ	EKNRLDIFCC
VRGAEDGTSV	QASESCLFRF	FKNSYSPLLL	KDWMRPIVIA	IFVGVLSFSI
AVLNKVDIGL	DQSLSMPDDS	YMVDYFKSIS	QYLHAGPPVY	FVLEEGHDYT
SSKGQNMVCG	GMGCNNDSLV	QQIFNAAQLD	NYTRIGFAPS	SWIDDYFDWV
KPQSSCCRVD	NITDQFCNAS	VVDPACVRCR	PLTPEGKQRP	QGGDFMRFLP
MFLSDNPNPK	CGKGGHAAYS	SAVNILLGHG	TRVGATYFMT	YHTVLQTSAD
FIDALKKARL	IASNVTETMG	INGSAYRVFP	YSVFYVFYEQ	YLTIIDDTIF
NLGVSLGAIF	LVTMVLLGCE	LWSAVIMCAT	IAMVLVNMFG	VMWLWGISLN
AVSLVNLVMS	CGISVEFCSH	ITRAFTVSMK	GSRVERAEEA	LAHMGSSVFS
GITLTKFGGI	VVLAFAKSQI	FQIFYFRMYL	AMVLLGATHG	LIFLPVLLSY
IGPSVNKAKS	CATEERYKGT	ERERLLNF

Gen NPC1 nalazi se na dugom (q) kraku hromosoma 18, na poziciji q11.2.

Funkcija

NPC1 je identificiran kao gen čija mutacija izaziva Niemann-Pickovu bolest tip C. Niemann-Pick-ova bolest, tip C, rijedak je neurovisceralni poremećaj skladištenja lipida, koji je posljedica autosomnih recesivno naslijeđenih mutacija gubitka funkcije bilo u NPC1 ili NPC2. To remeti unutarćelijski transport lipida, što dovodi do akumulacije lipidnih produkata u kasnim endosomima i lizosomima. Otkriveno je da približno 95% NPC pacijenata ima mutacije u genu NPC1.

NPC1 kodira pretpostavljeni integralni membranski protein koji sadrži motiv sekvence u skladu s ulogom u unutarćelijskom transportu holesterola do odredišta nakon lizosoma.^[5]^[8]

Klinički značaj

Gojaznost

Mutacije u genu NPC1 snažno su povezane sa gojaznosti.^[9] Istraživanje povezanosti u genomu identificiralo je mutacije NPC1 kao faktor rizika kod dječje gojaznosti i morbidne gojaznosti odraslih i 1.416 starosne dobi odgovarajuće kontrole normalne težine.^[9] Mutacije u NPC1 također su bile u korelaciji sa uobičajenim prirastom težine u populaciji. Prethodne studije na miševima sugerirale su da gen NPC1 ima ulogu u kontroli apetita, budući da miševi s nefunkcionalnim genom NPC1 kasno počinju gubiti težinu i slabo unose hranu. Varijanta gena NPC1 mogla bi predstavljati oko 10 % ukupne dječje pretilosti i oko 14 % odraslih slučajeva morbidne pretilosti.^[9]

HIV-AIDS

Putevi holesterola imaju važnu ulogu u više faza tokom ciklusa infekcije HIV-1. Fuzija, ulazak, sastavljanje i pupanje HIV-1 dolazi do mikrodomena obogaćenih holesterolom, zvanih lipidni splav. Dokazano je da proteinski pribor za HIV-1, Nef, inducira mnoge gene koji su uključeni u biosintezu i homeostazu holesterola. Unutarćelijski putevi prometa holesterola, posredovani NPC1-om, potrebni su za efikasnu proizvodnju HIV-1.^[10]^[11]

Ebola virus

Čini se da je ljudski transporter holesterola Niemann-Pickove bolesti C1 (NPC1) ključan za infekciju virusom ebole: niz nezavisnih studija iznijele su dokaze da virus ebole ulazi u ljudske ćelije nakon vezanja za NPC1.^[12]^[13] Kada su ćelije pacijenata kojima ovaj transporter u laboratoriji nije bio izloženi virusu ebole, one su preživjele i izgledale nepropusno za virus, što dalje ukazuje da se ebola, za ulaz u ćelije, oslanja na NPC1.^[13] Iste studije su opisale slične rezultate sa Marburg virusom, drugim filovirusom, pokazujući da i njemu treba NPC1 za ulazak u ćelije.^[13] U jednoj od studija pokazalo se da je NPC1 presudan za ulazak u filovirusa, jer posreduje infekciju, vežući se direktno za glikoproteinsku virusnu ovojnicu.^[13] A kasnija studija potvrdila je nalaze da je NPC1 kritični filovirusni receptor koji posreduje infekciju, vežući se direktno za virusnu ovojnicu i da u ovom vezanju posreduje drugi lizosomski domen NPC1.^[14]

U jednoj od originalnih studija pokazano je da mala molekula inhibira infekciju virusom ebole, sprečavajući da se virusni glikoprotein veže za NPC1.^[13]^[15] U drugoj studiji pokazalo se da su heterozigotni miševi za NPC1 zaštićeni od smrtonosnog izazivanja za miševe prilagođenim virusom ebole.^[12] Zajedno, ove studije sugeriraju da NPC1 može biti potencijalni terapijski cilj za antivirusni lijek protiv ebole.

Mehanizmi u patologiji

U modelu miša koji nosi osnovnu mutaciju za Niemann–Pickovu bolest tip C1 u NPC1 proteinu, pokazalo se da je ekspresija regulatornog faktora mijelinskog gena (MRF) značajno smanjena.^[16] Regulatorni faktor gena za mijelin (MRF) je faktor transkripcije od presudne važnosti u razvoju i održavanju mijelinskih ovojnica.^[17] Perturbacija sazrijevanja oligodendrocita i proces mijelinizacije mogu stoga biti osnovni mehanizam neuroloških deficita.^[16]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000141458 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024413 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: NPC1 Niemann-Pick disease, type C1".
^ Carstea ED, Polymeropoulos MH, Parker CC, Detera-Wadleigh SD, O'Neill RR, Patterson MC, et al. (mart 1993). "Linkage of Niemann-Pick disease type C to human chromosome 18". Proceedings of the National Academy of Sciences of the United States of America. 90 (5): 2002–4. Bibcode:1993PNAS...90.2002C. doi:10.1073/pnas.90.5.2002. PMC 46008. PMID 8446622.
^ "UniProt, O15118". Pristupljeno 12. 9. 2017.
^ Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, et al. (juli 1997). "Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis". Science. 277 (5323): 228–31. doi:10.1126/science.277.5323.228. PMID 9211849.
^ ^a ^b ^c Meyre D, Delplanque J, Chèvre JC, Lecoeur C, Lobbens S, Gallina S, et al. (februar 2009). "Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations". Nature Genetics. 41 (2): 157–9. doi:10.1038/ng.301. PMID 19151714. S2CID 11218794.
^ Tang Y, Leao IC, Coleman EM, Broughton RS, Hildreth JE (august 2009). "Deficiency of niemann-pick type C-1 protein impairs release of human immunodeficiency virus type 1 and results in Gag accumulation in late endosomal/lysosomal compartments". Journal of Virology. 83 (16): 7982–95. doi:10.1128/JVI.00259-09. PMC 2715784. PMID 19474101.
^ Coleman EM, Walker TN, Hildreth JE (januar 2012). "Loss of Niemann Pick type C proteins 1 and 2 greatly enhances HIV infectivity and is associated with accumulation of HIV Gag and cholesterol in late endosomes/lysosomes". Virology Journal. 9 (1): 31. doi:10.1186/1743-422X-9-31. PMC 3299633. PMID 22273177.
^ ^a ^b Carette JE, Raaben M, Wong AC, Herbert AS, Obernosterer G, Mulherkar N, et al. (august 2011). "Ebola virus entry requires the cholesterol transporter Niemann-Pick C1". Nature. 477 (7364): 340–3. Bibcode:2011Natur.477..340C. doi:10.1038/nature10348. PMC 3175325. PMID 21866103. Sažetak – New York Times.
^ ^a ^b ^c ^d ^e Côté M, Misasi J, Ren T, Bruchez A, Lee K, Filone CM, et al. (august 2011). "Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection". Nature. 477 (7364): 344–8. Bibcode:2011Natur.477..344C. doi:10.1038/nature10380. PMC 3230319. PMID 21866101. Sažetak – New York Times.
^ Miller EH, Obernosterer G, Raaben M, Herbert AS, Deffieu MS, Krishnan A, et al. (april 2012). "Ebola virus entry requires the host-programmed recognition of an intracellular receptor". The EMBO Journal. 31 (8): 1947–60. doi:10.1038/emboj.2012.53. PMC 3343336. PMID 22395071.
^ Flemming A (septembar 2011). "Achilles heel of Ebola viral entry". Nature Reviews. Drug Discovery. 10 (10): 731. doi:10.1038/nrd3568. PMID 21959282. S2CID 26888076.
^ ^a ^b Yan X, Lukas J, Witt M, Wree A, Hübner R, Frech M, et al. (decembar 2011). "Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse". Metabolic Brain Disease. 26 (4): 299–306. doi:10.1007/s11011-011-9263-9. PMID 21938520. S2CID 26878522.
^ Koenning M, Jackson S, Hay CM, Faux C, Kilpatrick TJ, Willingham M, Emery B (septembar 2012). "Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS". The Journal of Neuroscience. 32 (36): 12528–42. doi:10.1523/JNEUROSCI.1069-12.2012. PMC 3752083. PMID 22956843.

Dopunska literatura

Vanier MT, Suzuki K (januar 1998). "Recent advances in elucidating Niemann-Pick C disease". Brain Pathology. 8 (1): 163–74. doi:10.1111/j.1750-3639.1998.tb00143.x. PMID 9458174. S2CID 10300500.
Liscum L, Klansek JJ (april 1998). "Niemann-Pick disease type C". Current Opinion in Lipidology. 9 (2): 131–5. doi:10.1097/00041433-199804000-00009. PMID 9559270.
Morris JA, Carstea ED (decembar 1998). "Niemann-Pick C disease: cholesterol handling gone awry". Molecular Medicine Today. 4 (12): 525–31. doi:10.1016/S1357-4310(98)01374-4. PMID 9866822.
Garver WS, Heidenreich RA (august 2002). "The Niemann-Pick C proteins and trafficking of cholesterol through the late endosomal/lysosomal system". Current Molecular Medicine. 2 (5): 485–505. doi:10.2174/1566524023362375. PMID 12125814.
Greer WL, Riddell DC, Byers DM, Welch JP, Girouard GS, Sparrow SM, et al. (juli 1997). "Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C". American Journal of Human Genetics. 61 (1): 139–42. doi:10.1086/513899. PMC 1715879. PMID 9245994.
Greer WL, Riddell DC, Gillan TL, Girouard GS, Sparrow SM, Byers DM, et al. (juli 1998). "The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1". American Journal of Human Genetics. 63 (1): 52–4. doi:10.1086/301931. PMC 1377252. PMID 9634529.
Watari H, Blanchette-Mackie EJ, Dwyer NK, Glick JM, Patel S, Neufeld EB, et al. (februar 1999). "Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization". Proceedings of the National Academy of Sciences of the United States of America. 96 (3): 805–10. Bibcode:1999PNAS...96..805W. doi:10.1073/pnas.96.3.805. PMC 15306. PMID 9927649.
Patel SC, Suresh S, Kumar U, Hu CY, Cooney A, Blanchette-Mackie EJ, et al. (februar 1999). "Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease". Proceedings of the National Academy of Sciences of the United States of America. 96 (4): 1657–62. Bibcode:1999PNAS...96.1657P. doi:10.1073/pnas.96.4.1657. PMC 15549. PMID 9990080.
Morris JA, Zhang D, Coleman KG, Nagle J, Pentchev PG, Carstea ED (august 1999). "The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene". Biochemical and Biophysical Research Communications. 261 (2): 493–8. doi:10.1006/bbrc.1999.1070. PMID 10425213.
Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, et al. (1999). "NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C". Human Genetics. 105 (1–2): 10–6. doi:10.1007/s004390051057. PMID 10480349.
Greer WL, Dobson MJ, Girouard GS, Byers DM, Riddell DC, Neumann PE (novembar 1999). "Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain". American Journal of Human Genetics. 65 (5): 1252–60. doi:10.1086/302620. PMC 1288277. PMID 10521290.
Millat G, Marçais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, et al. (novembar 1999). "Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype". American Journal of Human Genetics. 65 (5): 1321–9. doi:10.1086/302626. PMC 1288284. PMID 10521297.
Davies JP, Ioannou YA (august 2000). "Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein". The Journal of Biological Chemistry. 275 (32): 24367–74. doi:10.1074/jbc.M002184200. PMID 10821832.
Millat G, Marçais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, et al. (juni 2001). "Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop". American Journal of Human Genetics. 68 (6): 1373–85. doi:10.1086/320606. PMC 1226124. PMID 11333381.
Sun X, Marks DL, Park WD, Wheatley CL, Puri V, O'Brien JF, et al. (juni 2001). "Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1". American Journal of Human Genetics. 68 (6): 1361–72. doi:10.1086/320599. PMC 1226123. PMID 11349231.

Vanjski linkovi

Commons logo

Commons ima datoteke na temu: NPC1

NPC1 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
Fight NPC, a website dedicated to providing information and resources on treating Niemann–Pick type C disease Arhivirano 5. 6. 2021. na Wayback Machine
Hide & Seek Foundation for Lysosomal Disease Research

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000141458 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024413 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: NPC1 Niemann-Pick disease, type C1".

[pmid8446622-6] Carstea ED, Polymeropoulos MH, Parker CC, Detera-Wadleigh SD, O'Neill RR, Patterson MC, et al. (mart 1993). "Linkage of Niemann-Pick disease type C to human chromosome 18". Proceedings of the National Academy of Sciences of the United States of America. 90 (5): 2002–4. Bibcode:1993PNAS...90.2002C. doi:10.1073/pnas.90.5.2002. PMC 46008. PMID 8446622.

[UniProt-7] "UniProt, O15118". Pristupljeno 12. 9. 2017.

[pmid9211849-8] Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, et al. (juli 1997). "Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis". Science. 277 (5323): 228–31. doi:10.1126/science.277.5323.228. PMID 9211849.

[pmid19151714-9] Meyre D, Delplanque J, Chèvre JC, Lecoeur C, Lobbens S, Gallina S, et al. (februar 2009). "Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations". Nature Genetics. 41 (2): 157–9. doi:10.1038/ng.301. PMID 19151714. S2CID 11218794.

[pmid19474101-10] Tang Y, Leao IC, Coleman EM, Broughton RS, Hildreth JE (august 2009). "Deficiency of niemann-pick type C-1 protein impairs release of human immunodeficiency virus type 1 and results in Gag accumulation in late endosomal/lysosomal compartments". Journal of Virology. 83 (16): 7982–95. doi:10.1128/JVI.00259-09. PMC 2715784. PMID 19474101.

[pmid22273177-11] Coleman EM, Walker TN, Hildreth JE (januar 2012). "Loss of Niemann Pick type C proteins 1 and 2 greatly enhances HIV infectivity and is associated with accumulation of HIV Gag and cholesterol in late endosomes/lysosomes". Virology Journal. 9 (1): 31. doi:10.1186/1743-422X-9-31. PMC 3299633. PMID 22273177.

[Carette_2011-12] Carette JE, Raaben M, Wong AC, Herbert AS, Obernosterer G, Mulherkar N, et al. (august 2011). "Ebola virus entry requires the cholesterol transporter Niemann-Pick C1". Nature. 477 (7364): 340–3. Bibcode:2011Natur.477..340C. doi:10.1038/nature10348. PMC 3175325. PMID 21866103. Sažetak – New York Times.

[Côté_2011-13] Côté M, Misasi J, Ren T, Bruchez A, Lee K, Filone CM, et al. (august 2011). "Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection". Nature. 477 (7364): 344–8. Bibcode:2011Natur.477..344C. doi:10.1038/nature10380. PMC 3230319. PMID 21866101. Sažetak – New York Times.

[pmid22395071-14] Miller EH, Obernosterer G, Raaben M, Herbert AS, Deffieu MS, Krishnan A, et al. (april 2012). "Ebola virus entry requires the host-programmed recognition of an intracellular receptor". The EMBO Journal. 31 (8): 1947–60. doi:10.1038/emboj.2012.53. PMC 3343336. PMID 22395071.

[pmid21959282-15] Flemming A (septembar 2011). "Achilles heel of Ebola viral entry". Nature Reviews. Drug Discovery. 10 (10): 731. doi:10.1038/nrd3568. PMID 21959282. S2CID 26888076.

[Yan_2011-16] Yan X, Lukas J, Witt M, Wree A, Hübner R, Frech M, et al. (decembar 2011). "Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse". Metabolic Brain Disease. 26 (4): 299–306. doi:10.1007/s11011-011-9263-9. PMID 21938520. S2CID 26878522.

[Koenning_2012-17] Koenning M, Jackson S, Hay CM, Faux C, Kilpatrick TJ, Willingham M, Emery B (septembar 2012). "Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS". The Journal of Neuroscience. 32 (36): 12528–42. doi:10.1523/JNEUROSCI.1069-12.2012. PMC 3752083. PMID 22956843.

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NPC1