A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions.

Marlen Colleen Reis; Julia Patrun; Nibal Ackl; Pia Winter; Maximilian Scheifele; Adrian Danek; Dagmar Nolte

doi:10.3389/fnmol.2022.878236

A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions.

Marlen Colleen Reis
, Julia Patrun
, Nibal Ackl
, Pia Winter
, Maximilian Scheifele
, Adrian Danek
, Dagmar Nolte

Research output: Contribution to journal › Original Article › peer-review

12 Citations (Web of Science)

Original language	English
Pages (from-to)	878236
Journal	FRONTIERS IN MOLECULAR NEUROSCIENCE
Volume	15
DOIs	https://doi.org/10.3389/fnmol.2022.878236
Publication status	Published - 2022

Keywords

TATA-BINDING PROTEIN
ATAXIA TYPE 48
TRINUCLEOTIDE REPEAT
UBIQUITIN LIGASE
C-TERMINUS
CHIP
DISEASE
PREDICTION
MUTATIONS
PHENOTYPE

Access to Document

10.3389/fnmol.2022.878236

Cite this

@article{bcf7915c1807456fa6a45a9ea4d4b290,

title = "A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions.",

keywords = "TATA-BINDING PROTEIN, ATAXIA TYPE 48, TRINUCLEOTIDE REPEAT, UBIQUITIN LIGASE, C-TERMINUS, CHIP, DISEASE, PREDICTION, MUTATIONS, PHENOTYPE",

author = "Reis, \{Marlen Colleen\} and Julia Patrun and Nibal Ackl and Pia Winter and Maximilian Scheifele and Adrian Danek and Dagmar Nolte",

note = "Lehr-KH Thurgau: Ackl: Psychiatrische Dienste Thurgau, M{\"u}nsterlingen, Switzerland",

year = "2022",

doi = "10.3389/fnmol.2022.878236",

language = "English",

volume = "15",

pages = "878236",

journal = "FRONTIERS IN MOLECULAR NEUROSCIENCE",

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publisher = "Frontiers Media Sa",

}

TY - JOUR

T1 - A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions.

AU - Reis, Marlen Colleen

AU - Patrun, Julia

AU - Ackl, Nibal

AU - Winter, Pia

AU - Scheifele, Maximilian

AU - Danek, Adrian

AU - Nolte, Dagmar

N1 - Lehr-KH Thurgau: Ackl: Psychiatrische Dienste Thurgau, Münsterlingen, Switzerland

PY - 2022

Y1 - 2022

KW - TATA-BINDING PROTEIN

KW - ATAXIA TYPE 48

KW - TRINUCLEOTIDE REPEAT

KW - UBIQUITIN LIGASE

KW - C-TERMINUS

KW - CHIP

KW - DISEASE

KW - PREDICTION

KW - MUTATIONS

KW - PHENOTYPE

U2 - 10.3389/fnmol.2022.878236

DO - 10.3389/fnmol.2022.878236

M3 - Original Article

C2 - 35493319

SN - 1662-5099

VL - 15

SP - 878236

JO - FRONTIERS IN MOLECULAR NEUROSCIENCE

JF - FRONTIERS IN MOLECULAR NEUROSCIENCE

ER -