[PDF][PDF] Nurten A. Akarsu, 3 Sebastian Maurer-Stroh, 14 Arda Cetinkaya, 3 Aida Bertoli-Avella, 36

AS Mathuru, L Ho, FA Bard, B Reversade - STAR, 2021 - researchgate.net
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome …

[HTML][HTML] Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

HH Wong, SH Seet, M Maier, A Gurel… - The American Journal of …, 2021 - cell.com
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome …

[PDF][PDF] Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy

NA Akarsu, S Maurer-Stroh, A Cetinkaya… - STAR - core.ac.uk
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome …

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

HH Wong, SH Seet, M Maier, RM Traspas, C Lee… - medRxiv, 2021 - medrxiv.org
Human C2orf69 is an evolutionary-conserved gene whose function is unknown. Here, we
report 9 children from 5 unrelated families with a fatal syndrome consisting of severe auto …

[HTML][HTML] C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

E Lausberg, S Gießelmann, JP Dewulf… - The Journal of …, 2021 - Am Soc Clin Investig
BACKGROUND Deciphering the function of the many genes previously classified as
uncharacterized open reading frame (ORF) would complete our understanding of a cell's …

Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72

N Chai, MS Haney, J Couthouis, DW Morgens… - Brain research, 2020 - Elsevier
Mutations in the C9ORF72 gene are the most common cause of amyotrophic lateral
sclerosis (ALS). Both toxic gain of function and loss of function pathogenic mechanisms …

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

E Lausberg, S Gießelmann, JP Dewulf, E Wiame… - medRxiv, 2021 - medrxiv.org
Background Deciphering the function of the many genes previously classified as
uncharacterized “open reading frame”(orf) completes our understanding of cell function and …

[HTML][HTML] C3orf70 is involved in neural and neurobehavioral development

Y Ashikawa, T Shiromizu, K Miura, Y Adachi, T Matsui… - Pharmaceuticals, 2019 - mdpi.com
Neurogenesis is the process by which undifferentiated progenitor cells develop into mature
and functional neurons. Defects in neurogenesis are associated with neurodevelopmental …

[HTML][HTML] Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

R Spiegel, H Mandel, A Saada, I Lerer… - European Journal of …, 2014 - nature.com
C12orf65 participates in the process of mitochondrial translation and has been shown to be
associated with a spectrum of phenotypes, including early onset optic atrophy, progressive …

[HTML][HTML] CRISPR interference to evaluate modifiers of C9ORF72-mediated toxicity in FTD

S Pickles, D Zanetti Alepuz, Y Koike, M Yue… - Frontiers in Cell and …, 2023 - frontiersin.org
Treatments for neurodegenerative disease, including Frontotemporal dementia (FTD) and
Amyotrophic lateral sclerosis (ALS), remain rather limited, underscoring the need for greater …