Editing Intermediate filament (section)

== Diseases arising from mutations in IF genes ==
* Dilated cardiomyoathy (DCM), mutations in the ''DES'' gene<ref>{{cite journal | vauthors = Fischer B, Dittmann S, Brodehl A, Unger A, Stallmeyer B, Paul M, Seebohm G, Kayser A, Peischard S, Linke WA, Milting H, Schulze-Bahr E | display-authors = 6 | title = Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death | journal = International Journal of Cardiology | pages = 167–174 | date = December 2020 | volume = 329 | pmid = 33373648 | doi = 10.1016/j.ijcard.2020.12.050 | s2cid = 229719883 }}</ref>
* [[Arrhythmogenic cardiomyopathy]] (ACM), mutations in the ''DES'' gene<ref>{{cite journal | vauthors = Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J | display-authors = 6 | title = Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia | journal = Circulation | volume = 137 | issue = 15 | pages = 1595–1610 | date = April 2018 | pmid = 29212896 | doi = 10.1161/CIRCULATIONAHA.117.028719 | s2cid = 4715358 | doi-access = free | hdl = 10481/89514 | hdl-access = free }}</ref><ref>{{cite journal | vauthors = Protonotarios A, Brodehl A, Asimaki A, Jager J, Quinn E, Stanasiuk C, Ratnavadivel S, Futema M, Akhtar MM, Gossios TD, Ashworth M, Savvatis K, Walhorn V, Anselmetti D, Elliott PM, Syrris P, Milting H, Lopes LR | display-authors = 6 | title = The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular Arrhythmogenic Cardiomyopathy | journal = The Canadian Journal of Cardiology | pages = 857–866 | date = December 2020 | volume = 37 | issue = 6 | pmid = 33290826 | doi = 10.1016/j.cjca.2020.11.017 | s2cid = 228078648 | url = https://discovery.ucl.ac.uk/id/eprint/10117120/ }}</ref><ref name="pmid20829228">{{cite journal | vauthors = Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H | display-authors = 6 | title = De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy | journal = Human Molecular Genetics | volume = 19 | issue = 23 | pages = 4595–607 | date = December 2010 | pmid = 20829228 | doi = 10.1093/hmg/ddq387 | doi-access = free }}</ref><ref name="pmid22403400">{{cite journal | vauthors = Brodehl A, Hedde PN, Dieding M, Fatima A, Walhorn V, Gayda S, Šarić T, Klauke B, Gummert J, Anselmetti D, Heilemann M, Nienhaus GU, Milting H | display-authors = 6 | title = Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants | journal = The Journal of Biological Chemistry | volume = 287 | issue = 19 | pages = 16047–57 | date = May 2012 | pmid = 22403400 | pmc = 3346104 | doi = 10.1074/jbc.M111.313841 | doi-access = free }}</ref>
* Restrictive cardiomyopathy (RCM), mutations in the ''DES'' gene<ref>{{cite journal | vauthors = Brodehl A, Pour Hakimi SA, Stanasiuk C, Ratnavadivel S, Hendig D, Gaertner A, Gerull B, Gummert J, Paluszkiewicz L, Milting H | display-authors = 6 | title = Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (''DES'') Mutation p.Y122H Leading to a Severe Filament Assembly Defect | journal = Genes | volume = 10 | issue = 11 | page = 918 | date = November 2019 | pmid = 31718026 | pmc = 6896098 | doi = 10.3390/genes10110918 | doi-access = free }}</ref>
* Non-compaction cardiomyopathy, mutations in the ''DES'' genes<ref>{{cite journal | vauthors = Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M | display-authors = 6 | title = Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients | journal =  Brain: A Journal of Neurology| volume = 130 | issue = Pt 12 | pages = 3250–64 | date = December 2007 | pmid = 18055494 | doi = 10.1093/brain/awm271| doi-access = free }}</ref><ref>{{cite journal | vauthors = Marakhonov AV, Brodehl A, Myasnikov RP, Sparber PA, Kiseleva AV, Kulikova OV, Meshkov AN, Zharikova AA, Koretsky SN, Kharlap MS, Stanasiuk C, Mershina EA, Sinitsyn VE, Shevchenko AO, Mozheyko NP, Drapkina OM, Boytsov SA, Milting H, Skoblov MY | display-authors = 6 | title = Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect | journal = Human Mutation | volume = 40 | issue = 6 | pages = 734–741 | date = June 2019 | pmid = 30908796 | doi = 10.1002/humu.23747 | s2cid = 85515283 | doi-access = free }}</ref>
* Cardiomyopathy in combination with skeletal myopathy (''DES'')<ref>{{cite journal | vauthors = Schirmer I, Dieding M, Klauke B, Brodehl A, Gaertner-Rommel A, Walhorn V, Gummert J, Schulz U, Paluszkiewicz L, Anselmetti D, Milting H | display-authors = 6 | title = A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy | journal = Molecular Genetics & Genomic Medicine | volume = 6 | issue = 2 | pages = 288–293 | date = March 2018 | pmid = 29274115 | pmc = 5902401 | doi = 10.1002/mgg3.358 }}</ref>
* [[Epidermolysis bullosa simplex]]; [[keratin 5]] or [[keratin 14]] mutation
* [[Laminopathies]] are a family of diseases caused by mutations in nuclear lamins and include [[Hutchinson Gilford progeria syndrome|Hutchinson-Gilford progeria syndrome]] and various lipodystrophies and cardiomyopathies among others.