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

11 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

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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",

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journal = "FRONTIERS IN MOLECULAR NEUROSCIENCE",

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publisher = "Frontiers Media Sa",

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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 -