Allelic strengths of encephalopathy-associated

Journal

medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986

Informations de publication

Date de publication:
02 Oct 2023
Historique:
pubmed: 28 7 2023
medline: 28 7 2023
entrez: 28 7 2023
Statut: epublish

Résumé

Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and ER stress. Variants in the

Identifiants

DOI: 10.1101/2023.07.17.23292782 PMID: 37502976 PMC: PMC10371176
pubmed: 37502976
doi: 10.1101/2023.07.17.23292782
pmc: PMC10371176
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : NCATS NIH HHS
ID : UL1 TR002369
Pays : United States
Organisme : NIH HHS
ID : R24 OD031447
Pays : United States
Organisme : BLRD VA
ID : IK2 BX004523
Pays : United States
Organisme : NIH HHS
ID : R24 OD022005
Pays : United States
Organisme : NIH HHS
ID : U54 OD030165
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103555
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007690
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM142486
Pays : United States

Déclaration de conflit d'intérêts

Declaration of interests The authors declare no competing interests.

Auteurs

Xueyang Pan (X)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Albert N Alvarez (AN)

Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, OR 97239, USA.

Mengqi Ma (M)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Shenzhao Lu (S)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Michael W Crawford (MW)

Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, OR 97239, USA.

Lauren C Briere (LC)

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

Oguz Kanca (O)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Shinya Yamamoto (S)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.

David A Sweetser (DA)

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.

Jenny L Wilson (JL)

Division of Pediatric Neurology, Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA.

Ruth J Napier (RJ)

Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, OR 97239, USA.
VA Portland Health Care System, Portland, OR 97239, USA.
Division of Arthritis & Rheumatic Diseases, Oregon Health & Science University, Portland, OR 97239, USA.

Jonathan N Pruneda (JN)

Department of Molecular Microbiology & Immunology, Oregon Health & Science University, Portland, OR 97239, USA.

Hugo J Bellen (HJ)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan & Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.

Classifications MeSH