Intermediate filaments (IFs) are encoded by the largest gene family among the three major cytoskeletal protein groups. Unique IF compliments are expressed in selective cell types, and this expression is reflected in their involvement, upon mutation, as a cause of or predisposition to more than 80 human tissue-specific diseases. This Review Series covers diseases and functional and structural aspects pertaining to IFs and highlights the molecular and functional consequences of IF-associated diseases (IF-pathies). Exciting challenges and opportunities face the IF field, including developing both a better understanding of the pathogenesis of IF-pathies and targeted therapeutic approaches.
M. Bishr Omary
Title and authors | Publication | Year |
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HMCN1 variants modify epidermolysis bullosa simplex severity
Shir Bergson, Ofer Sarig, Moshe Giladi, Mariana Mogezel-Salem, Karin Smorodinsky-Atias, Ofir Sade, Bar Manori, Janan Mohamad, Sari Assaf, Kiril Malovitski, Yarden Feller, Mor Pavlovsky, Stefan Hainzl, Thomas Kocher, Julia Illmer, Noy Eretz Kdosha, Lubna Khair, Roland Zauner, Josefina Hofbauer, Ruby Shalom-Feuerstein, Verena Wally, Ulrich Koller, Liat Samuelov, Yoni Haitin, Uri Ashery, Rotem Rubinstein, Eli Sprecher |
The Journal of experimental medicine | 2025 |
Deletions in Glial Fibrillary Acidic Protein Leading to Alterations in Intermediate Filament Assembly and Network Formation
Lin NH, Jian WS, Perng MD |
International Journal of Molecular Sciences | 2025 |
Are the Head and Tail Domains of Intermediate Filaments Really Unstructured Regions?
Tsilafakis K, Mavroidis M |
Genes & development | 2024 |
Intermediate Filaments in Breast Cancer Progression, and Potential Biomarker for Cancer Therapy: A Narrative Review
Shalannandia WA, Chou Y, Bashari MH, Khairani AF |
Breast Cancer : Targets and Therapy | 2024 |
Deacetylation via SIRT2 prevents keratin mutation-associated injury and keratin aggregation
Jingyuan Sun, Pei Li, Honglian Gui, Laure Rittié, David B. Lombard, Katrin Rietscher, Thomas Magin, Qing Xie, Li Liu, M. Bishr Omary |
JCI Insight | 2023 |
Keratin filament mechanics and energy dissipation are determined by metal-like plasticity
Lorenz C, Forsting J, Style RW, Klumpp S, Köster S |
Matter | 2023 |
The CRL3gigaxonin ubiquitin ligase–USP15 pathway governs the destruction of neurofilament proteins
Park HM, Le L, Nguyen TT, Nam KH, Ordureau A, Lee JE, Nguyen TV |
Proceedings of the National Academy of Sciences | 2023 |
Neurofilaments in health and Charcot-Marie-Tooth disease
Kotaich F, Caillol D, Bomont P |
Frontiers in Cell and Developmental Biology | 2023 |
Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments
Murtinheira F, Migueis M, Letra-Vilela R, Diallo M, Quezada A, Valente CA, Oliva A, Rodriguez C, Martin V, Herrera F |
Cells | 2022 |
What does desmin do: A bibliometric assessment of the functions of the muscle intermediate filament
Gomes G, Seixas MR, Azevedo S, Audi K, Jurberg AD, Mermelstein C, Costa ML |
Experimental Biology and Medicine | 2022 |
Roles of Keratins in Intestine
Mun J, Hur W, Ku NO |
International journal of molecular sciences | 2022 |
Using Fluorescence Recovery After Photobleaching data to uncover filament dynamics
Dallon JC, Leduc C, Grant CP, Evans EJ, Etienne-Manneville S, Portet S |
PLoS computational biology | 2022 |
Bend, Push, Stretch: Remarkable Structure and Mechanics of Single Intermediate Filaments and Meshworks
KT Sapra, O Medalia |
Cells | 2021 |
Recent insight into intermediate filament structure
SA Eldirany, IB Lomakin, M Ho, CG Bunick |
Current Opinion in Cell Biology | 2021 |
Intermediate Filaments from Tissue Integrity to Single Molecule Mechanics
EJ van Bodegraven, S Etienne-Manneville |
Cells | 2021 |
DNA methylation patterns–based subtype distinction and identification of soft tissue sarcoma prognosis
K Li, Z Wu, J Yao, J Fan, Q Wei |
Medicine | 2021 |
Keratin 1 as a Cell-surface Receptor in Cancer
Ogunnigbagbe O, Bunick CG, Kaur K |
2021 | |
A dominant vimentin variant causes a rare syndrome with premature aging
B Cogné, JE Bouameur, G Hayot, X Latypova, S Pattabiraman, A Caillaud, K Si-Tayeb, T Besnard, S Küry, C Chariau, A Gaignerie, L David, P Bordure, D Kaganovich, S Bézieau, C Golzio, TM Magin, B Isidor |
European Journal of Human Genetics | 2020 |
Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain
AJ Hinbest, SA Eldirany, M Ho, CG Bunick |
International journal of molecular sciences | 2020 |
KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses
Y Ying, L Lu, S Banerjee, L Xu, Q Zhao, H Wu, R Li, X Xu, H Yu, D Neculai, , F Yang, J Qin, C Li |
Human genomics | 2020 |
Vimentin S‐glutathionylation at Cys328 inhibits filament elongation and induces severing of mature filaments in vitro
M KausDrobek, N Mücke, RH Szczepanowski, T Wedig, M CzarnockiCieciura, M Polakowska, H Herrmann, A WysłouchCieszyńska, M Dadlez |
The FEBS journal | 2020 |
Intermediate Filaments as Effectors of Cancer Development and Metastasis: A Focus on Keratins, Vimentin, and Nestin
P Sharma, S Alsharif, A Fallatah, BM Chung |
Cells | 2019 |
Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity
RA Battaglia, AS Beltran, S Delic, R Dumitru, JA Robinson, P Kabiraj, LE Herring, VJ Madden, N Ravinder, E Willems, RA Newman, RA Quinlan, JE Goldman, MD Perng, M Inagaki, NT Snider |
eLife | 2019 |
A proposed atomic model of the head-to-tail interaction in the filament structure of vimentin
R Dey, P Burkhard |
Journal of Biomolecular Structure and Dynamics | 2019 |
A tensile trilayered cytoskeletal endotube drives capillary-like lumenogenesis
LA Khan, G Jafari, N Zhang, E Membreno, S Yan, H Zhang, V Gobel |
The Journal of Cell Biology | 2019 |
Completion of the Vimentin Rod Domain Structure Using Experimental Restraints: A New Tool for Exploring Intermediate Filament Assembly and Mutations
DD Gae, MS Budamagunta, JF Hess, RM McCarrick, GA Lorigan, PG FitzGerald, JC Voss |
Structure (London, England : 1993) | 2019 |
Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease: GFAP ASO Therapy in AxD
TL Hagemann, B Powers, C Mazur, A Kim, S Wheeler, G Hung, E Swayze, A Messing |
Annals of Neurology | 2018 |
Intermediate filaments in cardiomyopathy
M Tsikitis, Z Galata, M Mavroidis, S Psarras, Y Capetanaki |
Biophysical Reviews | 2018 |
Lamins and Lamin-Associated Proteins in Gastrointestinal Health and Disease
GF Brady, R Kwan, JB Cunha, JS Elenbaas, MB Omary |
Gastroenterology | 2018 |
Nuclear lamina genetic variants, including a truncated LAP2, in twins and siblings with nonalcoholic fatty liver disease
GF Brady, R Kwan, PJ Ulintz, P Nguyen, S Bassirian, V Basrur, AI Nesvizhskii, R Loomba, MB Omary |
Hepatology | 2018 |
Decreased levels of keratin 8 sensitize mice to streptozotocin-induced diabetes
CM Alam, JS Silvander, TO Helenius, DM Toivola |
Acta physiologica (Oxford, England) | 2018 |
Site-specific glycosylation regulates the form and function of the intermediate filament cytoskeleton
HJ Tarbet, L Dolat, TJ Smith, BM Condon, ET O'Brien, RH Valdivia, M Boyce |
eLife | 2018 |
The significance of SUMOylation of angiogenic factors in cancer progression
M Wang, X Jiang |
Cancer biology & therapy | 2018 |
Global identification and analysis of isozyme-specific possible substrates crosslinked by transglutaminases using substrate peptides in mouse liver fibrosis
H Tatsukawa, Y Tani, R Otsu, H Nakagawa, K Hitomi |
Scientific Reports | 2017 |
Isolation of Intermediate Filament Proteins from Multiple Mouse Tissues to Study Aging-associated Post-translational Modifications
RA Battaglia, P Kabiraj, HH Willcockson, M Lian, NT Snider |
Journal of visualized experiments : JoVE | 2017 |
Intermediate filament proteins of digestive organs: physiology and pathophysiology
MB Omary |
AJP Gastrointestinal and Liver Physiology | 2017 |
A rim-and-spoke hypothesis to explain the biomechanical roles for cytoplasmic intermediate filament networks
RA Quinlan, N Schwarz, R Windoffer, C Richardson, T Hawkins, JA Broussard, KJ Green, RE Leube |
Journal of cell science | 2017 |
Keratins regulate colonic epithelial cell differentiation through the Notch1 signalling pathway
IA Lähdeniemi, JO Misiorek, CJ Antila, SK Landor, CG Stenvall, LE Fortelius, LK Bergström, C Sahlgren, DM Toivola |
Cell Death and Differentiation | 2017 |
Methods in Enzymology
J Sun, VE Groppi, H Gui, L Chen, Q Xie, L Liu, MB Omary |
Methods in enzymology | 2016 |
Keratin 8 knockdown leads to loss of the chloride transporter DRA in the colon
MN Asghar, S Priyamvada, JH Nyström, AN Anbazhagan, PK Dudeja, DM Toivola |
AJP Gastrointestinal and Liver Physiology | 2016 |
Keratins: Biomarkers and modulators of apoptotic and necrotic cell death in the liver: Hepatology, Vol. XX, No. X, 2016 Ku et al
NO Ku, P Strnad, H Bantel, MB Omary |
Hepatology | 2016 |
Intermediate Filaments and Polarization in the Intestinal Epithelium
R Coch, R Leube |
Cells | 2016 |
Multiple roles for keratin intermediate filaments in the regulation of epithelial barrier function and apico-basal polarity
PJ Salas, R Forteza, A Mashukova |
Tissue Barriers | 2016 |
Intermediate Filaments as Organizers of Cellular Space: How They Affect Mitochondrial Structure and Function
N Schwarz, R Leube |
Cells | 2016 |
Methods in Enzymology
NT Snider, MB Omary |
Methods in enzymology | 2016 |
Interaction of small heat shock proteins with light component of neurofilaments (NFL)
VV Nefedova, MV Sudnitsyna, NB Gusev |
Cell Stress and Chaperones | 2016 |
A novel function for the MAP kinase SMA-5 in intestinal tube stability
F Geisler, H Gerhardus, K Carberry, W Davis, E Jorgensen, C Richardson, O Bossinger, RE Leube |
Molecular biology of the cell | 2016 |
Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts
DA Hernandez, CM Bennett, L Dunina-Barkovskaya, T Wedig, Y Capetanaki, H Herrmann, GM Conover |
Molecular biology of the cell | 2016 |
Vimentin regulates activation of the NLRP3 inflammasome
G Santos, MR Rogel, MA Baker, JR Troken, D Urich, L Morales-Nebreda, JA Sennello, MA Kutuzov, A Sitikov, JM Davis, AP Lam, P Cheresh, D Kamp, DK Shumaker, GR Budinger, KM Ridge |
Nature Communications | 2015 |
Absence of keratins 8 and 18 expression in rodent epithelial cell lines associates with keratin gene mutation and DNA methylation: Cell line selective effects on cell invasion
R Kwan, KS Looi, MB Omary |
Experimental Cell Research | 2015 |
The Amount of Keratins Matters for Stress Protection of the Colonic Epithelium
MN Asghar, JS Silvander, TO Helenius, IA Lähdeniemi, C Alam, LE Fortelius, RO Holmsten, DM Toivola, P Strnad |
PloS one | 2015 |
Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury
V Usachov, TJ Urban, RJ Fontana, A Gross, S Iyer, MB Omary, P Strnad |
BMC Medicine | 2015 |
PKC412 normalizes mutation-related keratin filament disruption and hepatic injury in mice by promoting keratin-myosin binding: LIVER BIOLOGY/PATHOBIOLOGY
R Kwan, L Chen, K Looi, GZ Tao, SV Weerasinghe, NT Snider, MA Conti, RS Adelstein, Q Xie, MB Omary |
Hepatology | 2015 |
Absence of keratin 8 or 18 promotes antimitochondrial autoantibody formation in aging male mice
DM Toivola, A Habtezion, JO Misiorek, L Zhang, JH Nystro m, O Sharpe, WH Robinson, R Kwan, MB Omary |
The FASEB Journal | 2015 |
Intermediate Filaments Play a Pivotal Role in Regulating Cell Architecture and Function
J Lowery, ER Kuczmarski, H Herrmann, RD Goldman |
The Journal of biological chemistry | 2015 |
Intermediate filament mechanics in vitro and in the cell: from coiled coils to filaments, fibers and networks
S Köster, DA Weitz, RD Goldman, U Aebi, H Herrmann |
Current Opinion in Cell Biology | 2015 |
Cell biology to disease and back
MB Omary |
Nature Reviews Molecular Cell Biology | 2015 |
The toxic effect of R350P mutant desmin in striated muscle of man and mouse
CS Clemen, F Stöckigt, KH Strucksberg, F Chevessier, L Winter, J Schütz, R Bauer, JM Thorweihe, D Wenzel, U Schlötzer-Schrehardt, V Rasche, P Krsmanovic, HA Katus, W Rottbauer, S Just, OJ Müller, O Friedrich, R Meyer, H Herrmann, JW Schrickel, R Schröder |
Acta Neuropathologica | 2014 |
Post-translational modifications of intermediate filament proteins: mechanisms and functions
NT Snider, MB Omary |
Nature Reviews Molecular Cell Biology | 2014 |
Interphase phosphorylation of lamin A
V Kochin, T Shimi, E Torvaldson, SA Adam, A Goldman, CG Pack, J Melo-Cardenas, SY Imanishi, RD Goldman, JE Eriksson |
Journal of cell science | 2014 |
Intermediate filaments of the lung
H Yi, NO Ku |
Histochemistry and Cell Biology | 2013 |
Keratin 8 modulates -cell stress responses and normoglycaemia
CM Alam, JS Silvander, EN Daniel, GZ Tao, SM Kvarnstrom, P Alam, MB Omary, A Hanninen, DM Toivola |
Journal of cell science | 2013 |
A Conserved Rod Domain Phosphotyrosine That Is Targeted by the Phosphatase PTP1B Promotes Keratin 8 Protein Insolubility and Filament Organization
NT Snider, H Park, MB Omary |
The Journal of biological chemistry | 2013 |
Lamin aggregation is an early sensor of porphyria-induced liver injury
A Singla, NW Griggs, R Kwan, NT Snider, D Maitra, SA Ernst, H Herrmann, MB Omary |
Journal of cell science | 2013 |
Keratins significantly contribute to cell stiffness and impact invasive behavior
K Seltmann, AW Fritsch, JA Kas, TM Magin |
Proceedings of the National Academy of Sciences | 2013 |
Non-Coding Keratin Variants Associate with Liver Fibrosis Progression in Patients with Hemochromatosis
P Strnad, O Kucukoglu, M Lunova, N Guldiken, TC Lienau, F Stickel, MB Omary |
PloS one | 2012 |
Keratin 8 variants are infrequent in patients with alcohol-related liver cirrhosis and do not associate with development of hepatocellular carcinoma
V Usachov, P Nahon, M Lunova, M Ziol, P Rufat, A Sutton, M Beaugrand, P Strnad |
BMC Gastroenterology | 2012 |
A neuronal death model: overexpression of neuronal intermediate filament protein peripherin in PC12 cells
WC Lee, YY Chen, D Kan, CL Chien |
Journal of Biomedical Science | 2012 |
Suppression of Extensive Neurofilament Phosphorylation Rescues α-Internexin/Peripherin-Overexpressing PC12 Cells from Neuronal Cell Death
WC Lee, D Kan, YY Chen, SK Han, KS Lu, CL Chien |
PloS one | 2012 |
Desminopathies: pathology and mechanisms
CS Clemen, H Herrmann, SV Strelkov, R Schröder |
Acta Neuropathologica | 2012 |
Electron paramagnetic resonance analysis of the vimentin tail domain reveals points of order in a largely disordered region and conformational adaptation upon filament assembly
JF Hess, MS Budamagunta, A Aziz, PG FitzGerald, JC Voss |
Protein Science | 2012 |
Atomic structure of the vimentin central α-helical domain and its implications for intermediate filament assembly
AA Chernyatina, S Nicolet, U Aebi, H Herrmann, SV Strelkov |
Proceedings of the National Academy of Sciences | 2012 |
Lysine post-translational modifications and the cytoskeleton
WD Zencheck, H Xiao, LM Weiss |
Essays in Biochemistry | 2012 |
Alexander disease
A Messing, M Brenner, MB Feany, M Nedergaard, JE Goldman |
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2012 |
Apoptosis-Like Cell Death Induction and Aberrant Fibroblast Properties in Human Incisional Hernia Fascia
R Diaz, MT Quiles, J Guillem-Marti, M Lopez-Cano, P Huguet, S Ramon-Y-Cajal, J Reventos, M Armengol, MA Arbos |
The American Journal of Pathology | 2011 |
Management of cytoskeleton architecture by molecular chaperones and immunophilins
HR Quintá, NM Galigniana, AG Erlejman, M Lagadari, G Piwien-Pilipuk, MD Galigniana |
Cellular Signalling | 2011 |
Herpesviruses and Intermediate Filaments: Close Encounters with the Third Type
L Hertel |
Viruses | 2011 |
Isomin: a novel cytoplasmic intermediate filament protein from an arthropod species
C Mencarelli, S Ciolfi, D Caroti, P Lupetti, R Dallai |
BMC Biology | 2011 |
Intermediate filaments take the heat as stress proteins
DM Toivola, P Strnad, A Habtezion, MB Omary |
Trends in Cell Biology | 2010 |
Characterization of in vivo keratin 19 phosphorylation on tyrosine-391
Q Zhou, NT Snider, J Liao, DH Li, A Hong, NO Ku, CA Cartwright, MB Omary |
PloS one | 2010 |
Keratin Hypersumoylation Alters Filament Dynamics and Is a Marker for Human Liver Disease and Keratin Mutation*
NT Snider, SV Weerasinghe, JA Iñiguez-Lluhí, H Herrmann, MB Omary |
The Journal of biological chemistry | 2010 |
The role of the ubiquitin proteasome pathway in keratin intermediate filament protein degradation
MR Rogel, A Jaitovich, KM Ridge |
Proceedings of the American Thoracic Society | 2010 |
Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd |
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2009 |
Extending the knowledge in histochemistry and cell biology
WM Heupel, D Drenckhahn |
Histochemistry and Cell Biology | 2009 |