Spinocerebellar ataxia: an update
R Sullivan, WY Yau, E O'Connor, H Houlden - Journal of neurology, 2019 - Springer
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …
Mechanisms of vertebrate DNA interstrand cross-link repair
DNA interstrand cross-links (ICLs) covalently connect the two strands of the double helix and
are extremely cytotoxic. Defective ICL repair causes the bone marrow failure and cancer …
are extremely cytotoxic. Defective ICL repair causes the bone marrow failure and cancer …
FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat
R Goold, M Flower, DH Moss, C Medway… - Human molecular …, 2019 - academic.oup.com
Huntington's disease (HD) is an inherited neurodegenerative disease caused by an
expanded CAG repeat in the huntingtin (HTT) gene. CAG repeat length explains around half …
expanded CAG repeat in the huntingtin (HTT) gene. CAG repeat length explains around half …
FAN1 removes triplet repeat extrusions via a PCNA-and RFC-dependent mechanism
AS Phadte, M Bhatia, H Ebert… - Proceedings of the …, 2023 - National Acad Sciences
Human genome-wide association studies have identified FAN1 and several DNA mismatch
repair (MMR) genes as modifiers of Huntington's disease age of onset. In animal models …
repair (MMR) genes as modifiers of Huntington's disease age of onset. In animal models …
PrimPol‐mediated repriming facilitates replication traverse of DNA interstrand crosslinks
D González‐Acosta, E Blanco‐Romero… - The EMBO …, 2021 - embopress.org
DNA interstrand crosslinks (ICLs) induced by endogenous aldehydes or chemotherapeutic
agents interfere with essential processes such as replication and transcription. ICL …
agents interfere with essential processes such as replication and transcription. ICL …
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out
Recent genome-wide association studies of age-at-onset in Huntington's disease (HD) point
to distinct modes of potential disease modification: altering the rate of somatic expansion of …
to distinct modes of potential disease modification: altering the rate of somatic expansion of …
Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1
M Airik, YL Phua, AB Huynh, BT McCourt, BM Rush… - Kidney international, 2022 - Elsevier
Defective DNA repair pathways contribute to the development of chronic kidney disease
(CKD) in humans. However, the molecular mechanisms underlying DNA damage–induced …
(CKD) in humans. However, the molecular mechanisms underlying DNA damage–induced …
FAN1, a DNA repair nuclease, as a modifier of repeat expansion disorders
FAN1 encodes a DNA repair nuclease. Genetic deficiencies, copy number variants, and
single nucleotide variants of FAN1 have been linked to karyomegalic interstitial nephritis …
single nucleotide variants of FAN1 have been linked to karyomegalic interstitial nephritis …
FAN1 protects against repeat expansions in a Fragile X mouse model
XN Zhao, K Usdin - DNA repair, 2018 - Elsevier
The Fragile X-related disorders (FXDs) are members of a large group of human neurological
or neurodevelopmental conditions known as the Repeat Expansion Diseases. The mutation …
or neurodevelopmental conditions known as the Repeat Expansion Diseases. The mutation …
Altered epigenetic profiles in the placenta of preeclamptic and intrauterine growth restriction patients
C Norton, D Clarke, J Holmstrom, I Stirland… - Cells, 2023 - mdpi.com
Intrauterine growth restriction (IUGR) and preeclampsia (PE) are placental pathologies
known to complicate pregnancy and cause neonatal disorders. To date, there is a limited …
known to complicate pregnancy and cause neonatal disorders. To date, there is a limited …