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D-Index & Metrics

Genetics

D-Index
66
Citations
13618
World Ranking
2636
National Ranking
21

Overview

Ann Saada is affiliated with the Hebrew University of Jerusalem in Israel. Their research spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Within these broader areas, their work focuses notably on Molecular Biology, Physiology, Neurology, Clinical Biochemistry, and Genetics.

The scientist's research topics include:

  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • ATP Synthase and ATPases Research
  • RNA modifications and cancer
  • Photosynthetic Processes and Mechanisms
  • Genetics and Neurodevelopmental Disorders
  • Adipose Tissue and Metabolism

Their scholarly output includes publications in several venues, most frequently in:

  • Cells
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Journal of Inherited Metabolic Disease
  • Antioxidants
  • iScience

Among the recent papers authored or co-authored by Ann Saada are:

  • Large-scale implementation of pooled RNA extraction and RT-PCR for SARS-CoV-2 detection (2020, Clinical Microbiology and Infection)
  • Lessons from applied large-scale pooling of 133,816 SARS-CoV-2 RT-PCR tests (2021, Science Translational Medicine)
  • Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells (2020, Cells)
  • Mitochondrial-derived vesicles retain membrane potential and contain a functional ATP synthase (2023, EMBO Reports)
  • Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity (2021, Brain)

Collaborative work is a notable aspect of their career. Frequent co-authors include:

  • Liza Douiev
  • Tamar Harel
  • Chaya Miller
  • Avraham Shaag
  • Shira Yanovsky-Dagan

Best Publications

  • Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

    Ann Saada;Avraham Shaag;Hanna Mandel;Yoram Nevo

  • The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

    Hanna Mandel;Raymonde Szargel;Valentina Labay;Orly Elpeleg

  • Deleterious Mutation in the Mitochondrial Arginyl-Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

    Simon Edvardson;Avraham Shaag;Olga Kolesnikova;John Moshe Gomori

  • Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

    Orly Elpeleg;Orly Elpeleg;Chaya Miller;Eli Hershkovitz;Maria Bitner-Glindzicz

  • Control of Pancreatic β Cell Regeneration by Glucose Metabolism

    Shay Porat;Noa Weinberg-Corem;Sharona Tornovsky-Babaey;Rachel Schyr-Ben-Haroush

  • Peripheral nerve injury induces Schwann cells to express two macrophage phenotypes: phagocytosis and the galactose-specific lectin MAC-2

    F Reichert;A Saada;S Rotshenker

  • Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.

    Chaya Miller;Ann Saada;Nava Shaul;Naama Shabtai

  • Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

    Avraham Zeharia;Avraham Shaag;Orit Pappo;Anne-Marie Mager-Heckel

  • Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

    Avraham Zeharia;Avraham Zeharia;Avraham Shaag;Riekelt H. Houtkooper;Tareq Hindi

  • Large-scale implementation of pooled RNA extraction and RT-PCR for SARS-CoV-2 detection.

    R. Ben-Ami;A. Klochendler;M. Seidel;T. Sido

  • An international classification of inherited metabolic disorders (ICIMD).

    Carlos R Ferreira;Shamima Rahman;Shamima Rahman;Markus Keller;Johannes Zschocke

  • Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

    Ann Saada;Rutger O. Vogel;Saskia J. Hoefs;Mariël A. van den Brand

  • Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

    Jan A.M. Smeitink;Orly Elpeleg;Hana Antonicka;Heleen Diepstra

  • Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

    Simon Edvardson;Hiroko Hama;Avraham Shaag;John Moshe Gomori

  • Ablation of Ceramide Synthase 2 Causes Chronic Oxidative Stress Due to Disruption of the Mitochondrial Respiratory Chain

    Hila Zigdon;Aviram Kogot-Levin;Joo Won Park;Ruth Goldschmidt

  • C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

    Ann Saada;Simon Edvardson;Matan Rapoport;Avraham Shaag

  • Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.

    Ann Saada;Avraham Shaag;Shmuel Arnon;Tzipora Dolfin

  • Ceramide and the mitochondrial respiratory chain.

    Aviram Kogot-Levin;Ann Saada

  • Weaning Triggers a Maturation Step of Pancreatic β Cells

    Miri Stolovich-Rain;Jonatan Enk;Jonas Vikesa;Finn Cilius Nielsen

  • Granulocyte macrophage colony stimulating factor produced in lesioned peripheral nerves induces the up-regulation of cell surface expression of MAC-2 by macrophages and Schwann cells.

    Ann Saada;Fanny Reichert;Shlomo Rotshenker

Frequent Co-Authors

Orly Elpeleg
Orly Elpeleg Hebrew University of Jerusalem
Avraham Shaag
Avraham Shaag Hebrew University of Jerusalem
Hanna Mandel
Hanna Mandel Rambam Health Care Campus
Yuval Dor
Yuval Dor Hebrew University of Jerusalem
Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Richard J. Rodenburg
Richard J. Rodenburg Radboud University
Jan A.M. Smeitink
Jan A.M. Smeitink Radboud University
Anthony H. Futerman
Anthony H. Futerman Weizmann Institute of Science
Joris A. Veltman
Joris A. Veltman University of Edinburgh
Robert W. Taylor
Robert W. Taylor Newcastle University

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