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UnknownBroadening the phenotype of the TWNK gene associated Perrault syndrome.
Not available
S-EPMC6921552 | biostudies-literature
UnknownPerrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Not available
S-EPMC6712801 | biostudies-literature
UnknownTWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Not available
S-EPMC9544864 | biostudies-literature
TranscriptomicsRNA sequencing of astrocytes purified from adult brain cortices of TwKOastro mice (Knockout of Twnk in astrocytes generated with Gfap73.12:Cre driver, Jackson stock 012886)
To investigate astrocyte responses to mitochondrial dysfuncation, we induced a knockout of Twnk (encodes mitochondrial DNA helicase Twinkle) in mouse brain astrocytes (TwKOastro mice). This leads to depletion of mitochondrial genome copy number and its expression.
ORGANISM(S): Mus musculus 
2022-11-13 | GSE174343 | GEO
UnknownNovel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.
Not available
S-EPMC5299684 | biostudies-literature
UnknownMutation of TWNK Gene Is One of the Reasons of Runting and Stunting Syndrome Characterized by mtDNA Depletion in Sex-Linked Dwarf Chicken.
Not available
S-EPMC7381202 | biostudies-literature
UnknownA Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature.
Not available
S-EPMC8754503 | biostudies-literature
UnknownThe First Heterozygous <i>TWNK</i> Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.
Not available
S-EPMC12467334 | biostudies-literature
GenomicsRNA sequencing of astrocytes purified from adult brain cortices of TwKOastro mice (Knockout of Twnk in astrocytes generated with Gfap73.12:Cre driver, Jackson stock 012886)
RNA sequencing of astrocytes purified from adult brain cortices of TwKOastro mice (Knockout of Twnk in astrocytes generated with Gfap73.12:Cre driver, Jackson stock 012886)
PRJNA729491 | ENA
UnknownWhole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.
Not available
S-EPMC6712797 | biostudies-literature
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