Elsa Giordani's research while affiliated with French National Centre for Scientific Research and other places

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Publications (9)

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse
Article
Full-text available
  • Mar 2024
From a cohort of 167 infertile patients suffering from multiple morphological abnormalities of the flagellum (MMAF), pathogenic bi-allelic mutations were identified in the CCDC146 gene. In somatic cells, CCDC146 is located at the centrosome and at multiple microtubule-related organelles during mitotic division, suggesting that it is a microtubule-a...
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Sperm motility in mice with Oligo-astheno-teratozoospermia restored by in vivo injection and electroporation of naked mRNA
Preprint
  • Feb 2024
Oligo-astheno-teratozoospermia (OAT), a recurent cause of male infertility, is the most frequent disorder of spermatogenesis with a probable genetic cause. Patients and mice bearing mutations in the ARMC2 gene have a decreased sperm concentration, and individual sperm show multiple morphological defects and a lack of motility – a canonical OAT phen...
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Sperm motility in mice with Oligo-astheno-teratozoospermia restored by in vivo injection and electroporation of naked mRNA
Preprint
  • Feb 2024
Oligo-astheno-teratozoospermia (OAT), a recurent cause of male infertility, is the most frequent disorder of spermatogenesis with a probable genetic cause. Patients and mice bearing mutations in the ARMC2 gene have a decreased sperm concentration, and individual sperm show multiple morphological defects and a lack of motility – a canonical OAT phen...
Cite
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Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse
Preprint
  • Jan 2024
Genetic mutations are a recurrent cause of male infertility. Multiple morphological abnormalities of the flagellum (MMAF) syndrome is a heterogeneous genetic disease, with which more than 50 genes have been linked. Nevertheless, for 50% of patients with this condition, no genetic cause is identified. From a study of a cohort of 167 MMAF patients, p...
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Sperm motility restoration in mice suffering from oligo-astheno-teratozoospermia by in vivo injection and electroporation of naked mRNA
Preprint
Full-text available
  • Dec 2023
Oligo-astheno-teratozoospermia (OAT), a recurent cause of male infertility, is the most frequent disorder of spermatogenesis with a probable genetic cause. Patients and mice bearing mutations in the ARMC2 gene have a decreased sperm concentration, and individual sperm show multiple morphological defects and a lack of motility – a canonical OAT phen...
Cite
Download full-text
Figure 1: Identification of two CCDC146 gene variants in MMAF patients...
Figure 2: Ccdc146 KO mice are infertile and KO sperm exhibit a typical...
Figure 3: Histological evidence that spermiogenesis is disrupted in...
Figure 4:
+10 Figure 5:
Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse
Preprint
Full-text available
  • Apr 2023
Genetic mutations are a recurrent cause of male infertility. Multiple morphological abnormalities of the flagellum (MMAF) syndrome is a heterogeneous genetic disease, with which more than 50 genes have been linked. Nevertheless, for 50% of patients with this condition, no genetic cause is identified. From a study of a cohort of 167 MMAF patients, p...
Cite
Download full-text
Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse
Preprint
  • Apr 2023
From a cohort of 167 infertile patients suffering from multiple morphological abnormalities of the flagellum (MMAF), pathogenic bi-allelic mutations were identified in the CCDC146 gene. In somatic cells, CCDC146 is located at the centrosome and at multiple microtubule-related organelles during mitotic division, suggesting that it is a microtubule-a...
Cite
Request full-text
Figure 14
Figure 15
Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse
Preprint
Full-text available
  • Feb 2023
Genetic mutations are a recurrent cause of male infertility. Multiple morphological abnormalities of the flagellum (MMAF) syndrome is a heterogeneous genetic disease, with which more than 50 genes have been linked. Nevertheless, for 50% of patients with this condition, no genetic cause is identified. From a study of a cohort of 167 MMAF patients, p...
Cite
Download full-text

Citations

... Finally, we developed an antisense oligonucleotide (ASO) for suppressing CCDC146 in neurons, and demonstrated that this ASO rescued the ALS-associated survival deficit irrespective of genetic background or the baseline expression of CCDC146 , and without significant toxicity. We note that CCDC146 loss-of-function (LOF) is well tolerated in vivo 17 . We conclude that CCDC146 suppression could be developed as a new and broadly effective treatment for ALS. ...
Reference: Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS
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