A novel mutation in

Calcium / metabolism Cell Cycle Proteins / genetics Cell Line Child Electron Transport Complex I / genetics Endosomes / genetics Humans Male Mitochondria / genetics Mitochondrial Diseases / genetics Mutation / genetics NAD / genetics NADH Dehydrogenase / genetics Neurodevelopmental Disorders / genetics Pyruvates / metabolism
Spartin Spg20 mitochondria

Journal

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
ISSN: 1530-6860
Titre abrégé: FASEB J
Pays: United States
ID NLM: 8804484

Informations de publication

Date de publication:
10 2019
Historique:
pubmed: 18 7 2019
medline: 26 5 2020
entrez: 18 7 2019
Statut: ppublish

Résumé

Loss-of-function mutations in the

Identifiants

DOI: 10.1096/fj.201802722R PMID: 31314595
pubmed: 31314595
doi: 10.1096/fj.201802722R
doi:

Substances chimiques

Cell Cycle Proteins 0
Pyruvates 0
SPART protein, human 0
NAD 0U46U6E8UK
NADH Dehydrogenase EC 1.6.99.3
Electron Transport Complex I EC 7.1.1.2
Calcium SY7Q814VUP

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

11284-11302

Auteurs

Chiara Diquigiovanni (C)

Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Christian Bergamini (C)

Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy.

Rebeca Diaz (R)

School of Medicine, University of St. Andrews, St. Andrews, United Kingdom.

Irene Liparulo (I)

Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy.

Francesca Bianco (F)

Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Luca Masin (L)

Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy.

Vito Antonio Baldassarro (VA)

IRET Foundation, Ozzano Emilia, Bologna, Italy.

Nicola Rizzardi (N)

Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy.

Antonia Tranchina (A)

Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Francesco Buscherini (F)

Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Anita Wischmeijer (A)

Department of Pediatrics, Clinical Genetics Service, Regional Hospital of South Tyrol, Bolzano, Italy.

Tommaso Pippucci (T)

Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Emanuela Scarano (E)

Rare Disease Unit, Department of Pediatrics, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Duccio Maria Cordelli (DM)

Child Neurology and Psychiatry Unit, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Romana Fato (R)

Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy.

Marco Seri (M)

Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

Silvia Paracchini (S)

School of Medicine, University of St. Andrews, St. Andrews, United Kingdom.

Elena Bonora (E)

Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.

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Classifications MeSH

questionsmedicales.fr › Facteurs biologiques › Facteurs de la coagulation sanguine › Calcium › A novel mutation in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cycle cellulaire › A novel mutation in
questionsmedicales.fr › Cellules › Cellules cultivées › Lignée cellulaire › A novel mutation in
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › A novel mutation in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Métalloprotéines › Protéines de liaison au fer › Protéines à fer non hème › Ferrosulfoprotéines › Complexe I de la chaîne respiratoire › A novel mutation in
questionsmedicales.fr › Cellules › Structures cellulaires › Espace intracellulaire › Cytoplasme › Structures cytoplasmiques › Organites › Vésicules cytoplasmiques › Vésicules de transport › Endosomes › A novel mutation in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel mutation in
questionsmedicales.fr › Cellules › Structures cellulaires › Fractions subcellulaires › Mitochondries › A novel mutation in
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › A novel mutation in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A novel mutation in
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Nucléotides › Ribonucléotides › Nucléotides adényliques › NAD › A novel mutation in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Métalloprotéines › Protéines de liaison au fer › Protéines à fer non hème › Ferrosulfoprotéines › Complexe I de la chaîne respiratoire › NADH dehydrogenase › A novel mutation in
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › A novel mutation in
questionsmedicales.fr › Composés chimiques organiques › Acides carboxyliques › Cétoacides › Pyruvates › A novel mutation in