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TitleMutation ∆K281 in MAPT causes Pick's disease.
Journal, issue, pagesActa Neuropathol, Vol. 146, Issue 2, Page 211-226, Year 2023
Publish dateJun 23, 2023
AuthorsManuel Schweighauser / Holly J Garringer / Therése Klingstedt / K Peter R Nilsson / Masami Masuda-Suzukake / Jill R Murrell / Shannon L Risacher / Ruben Vidal / Sjors H W Scheres / Michel Goedert / Bernardino Ghetti / Kathy L Newell /
PubMed AbstractTwo siblings with deletion mutation ∆K281 in MAPT developed frontotemporal dementia. At autopsy, numerous inclusions of hyperphosphorylated 3R Tau were present in neurons and glial cells of ...Two siblings with deletion mutation ∆K281 in MAPT developed frontotemporal dementia. At autopsy, numerous inclusions of hyperphosphorylated 3R Tau were present in neurons and glial cells of neocortex and some subcortical regions, including hippocampus, caudate/putamen and globus pallidus. The inclusions were argyrophilic with Bodian silver, but not with Gallyas-Braak silver. They were not labelled by an antibody specific for tau phosphorylated at S262 and/or S356. The inclusions were stained by luminescent conjugated oligothiophene HS-84, but not by bTVBT4. Electron cryo-microscopy revealed that the core of tau filaments was made of residues K254-F378 of 3R Tau and was indistinguishable from that of Pick's disease. We conclude that MAPT mutation ∆K281 causes Pick's disease.
External linksActa Neuropathol / PubMed:37351604 / PubMed Central
MethodsEM (helical sym.)
Resolution2.61 Å
Structure data

17383

8p34

EMDB-17383, PDB-8p34:
Tau filaments extracted from human brain with the DeltaK281 mutation in MAPT
Method: EM (helical sym.) / Resolution: 2.61 Å

Source
  • homo sapiens (human)
  • human (human)
KeywordsPROTEIN FIBRIL / DeltaK281 / Tau / Amyloid filament / Cross-beta-sheet

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