Cargando…

AMPK signaling linked to the schizophrenia-associated 1q21.1 deletion is required for neuronal and sleep maintenance

The human 1q21.1 deletion of ten genes is associated with increased risk of schizophrenia. This deletion involves the β-subunit of the AMP-activated protein kinase (AMPK) complex, a key energy sensor in the cell. Although neurons have a high demand for energy and low capacity to store nutrients, the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nagy, Stanislav, Maurer, Gianna W., Hentze, Julie L., Rose, Morten, Werge, Thomas M., Rewitz, Kim
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317821/ https://www.ncbi.nlm.nih.gov/pubmed/30566533 http://dx.doi.org/10.1371/journal.pgen.1007623

Ejemplares similares

Analysis of genes within the schizophrenia-linked 22q11.2 deletion identifies interaction of night owl/LZTR1 and NF1 in GABAergic sleep control
por: Maurer, Gianna W., et al.
Publicado: (2020)

Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1
por: Pang, Hui, et al.
Publicado: (2020)

18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction
por: Obara, Koji, et al.
Publicado: (2023)

Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome
por: Alzarka, Bakri, et al.
Publicado: (2018)

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
por: Busè, Martina, et al.
Publicado: (2017)

A mouse model of the schizophrenia-associated 1q21.1 microdeletion syndrome exhibits altered mesolimbic dopamine transmission
por: Nielsen, Jacob, et al.
Publicado: (2017)

A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review
por: Almuzzaini, Bader, et al.
Publicado: (2020)

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes
por: Brodie, Seth A., et al.
Publicado: (2019)

Understanding the impact of 1q21.1 copy number variant
por: Harvard, Chansonette, et al.
Publicado: (2011)

Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes
por: Brodie, Seth A., et al.
Publicado: (2020)

Using induced pluripotent stem cells to investigate human neuronal phenotypes in 1q21.1 deletion and duplication syndrome
por: Chapman, Gareth, et al.
Publicado: (2021)

1q21.1 Duplication syndrome and epilepsy: Case report and review
por: Gourari, Ioulia, et al.
Publicado: (2018)

Prenatal Diagnosis and Genetic Analysis of 21q21.1–q21.2 Aberrations in Seven Chinese Pedigrees
por: Hu, Huamei, et al.
Publicado: (2021)

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
por: Guo, Nan, et al.
Publicado: (2023)

Narrowing the Genetic Causes of Language Dysfunction in the 1q21.1 Microduplication Syndrome
por: Benítez-Burraco, Antonio, et al.
Publicado: (2018)

Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders
por: Yoon, Joy, et al.
Publicado: (2021)

Identification of 1q21.1 microduplication in a family: A case report
por: Huang, Ting-Ting, et al.
Publicado: (2023)

A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited
por: Jin, Chunyan, et al.
Publicado: (2021)

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)
por: Lalani, Seema R, et al.
Publicado: (2006)

Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report
por: Chen, Shuang, et al.
Publicado: (2020)

1q21.1 microduplication in a patient with mental impairment and congenital heart defect
por: SUN, GUOWEN, et al.
Publicado: (2015)

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication
por: Wang, Hong‐Dan, et al.
Publicado: (2017)

Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation
por: Wen, Xiaohui, et al.
Publicado: (2022)

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
por: Yue, Fagui, et al.
Publicado: (2023)

A Rare Case of Allantoic Cyst with Patent Urachus in Fetus with a Microdeletion in 1q21.1q21.2 Region
por: Bouariu, Alexandra, et al.
Publicado: (2021)

Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies
por: Ji, Xiuqing, et al.
Publicado: (2018)

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
por: Sønderby, Ida E., et al.
Publicado: (2021)

Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review
por: Zhang, Hongguo, et al.
Publicado: (2021)

Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome
por: Yang, Rencong, et al.
Publicado: (2022)

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
por: Hu, Xuyun, et al.
Publicado: (2019)

A novel insertion ins(18;5)(q21.1;q31.2q35.1) in acute myeloid leukemia associated with microdeletions at 5q31.2, 5q35.1q35.2 and 18q12.3q21.1 detected by oligobased array comparative genomic hybridization
por: Kjeldsen, Eigil
Publicado: (2014)

Loss of heterozygosity for chromosomal regions 15q14-21.1, 17q21.31, and 13q12.3-13.1 and its relevance for prostate cancer
por: Nowacka-Zawisza, Maria, et al.
Publicado: (2015)

Identification of potential functional variants and genes at 18q21.1 associated with the carcinogenesis of colorectal cancer
por: Cheng, Xiaoqing, et al.
Publicado: (2022)

Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition
por: Migdalska, Anna M., et al.
Publicado: (2012)

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes
por: Luukkonen, Tiia Maria, et al.
Publicado: (2017)

Correction: Modeling Partial Monosomy for Human Chromosome 21q11.2-q21.1 Reveals Haploinsufficient Genes Influencing Behavior and Fat Deposition
por: Migdalska, Anna M., et al.
Publicado: (2012)

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss
por: Iossa, Sandra, et al.
Publicado: (2015)

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1
por: Jaworek, Thomas J., et al.
Publicado: (2012)

21.1 STRESS AND COGNITION IN YOUTH AT CLINICAL RISK FOR PSYCHOSIS
por: Walker, Elaine
Publicado: (2018)

The psychiatric phenotypes of 1q21 distal deletion and duplication
por: Linden, Stefanie C., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_a2a216j4kdvckflserft6019af