Cargando…

2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma

Pathogenic variants in ALS2 have been detected mostly in juvenile cases of amyotrophic lateral sclerosis (ALS), affecting mainly children and teenagers. Patients with ALS2 mutations demonstrate early onset cortical involvement in ALS. Currently, there are no effective treatment options. There is an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gautam, Mukesh, Carratore, Renata Del, Helmold, Benjamin, Tessa, Alessandra, Gozutok, Oge, Chandel, Navdeep, Idrisoglu, Halil, Bongioanni, Paolo, Battini, Roberta, Ozdinler, P.Hande
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8878019/ https://www.ncbi.nlm.nih.gov/pubmed/35208248 http://dx.doi.org/10.3390/metabo12020174

Ejemplares similares

Mutations and Protein Interaction Landscape Reveal Key Cellular Events Perturbed in Upper Motor Neurons with HSP and PLS
por: Gozutok, Oge, et al.
Publicado: (2021)

Protein-protein interactions reveal key canonical pathways, upstream regulators, interactome domains, and novel targets in ALS
por: Dervishi, Ina, et al.
Publicado: (2018)

Mitochondrial dysregulation occurs early in ALS motor cortex with TDP-43 pathology and suggests maintaining NAD(+) balance as a therapeutic strategy
por: Gautam, Mukesh, et al.
Publicado: (2022)

The Timing and Extent of Motor Neuron Vulnerability in ALS Correlates with Accumulation of Misfolded SOD1 Protein in the Cortex and in the Spinal Cord
por: Genc, Baris, et al.
Publicado: (2020)

Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons
por: Genc, Baris, et al.
Publicado: (2019)

Improving mitochondria and ER stability helps eliminate upper motor neuron degeneration that occurs due to mSOD1 toxicity and TDP‐43 pathology
por: Genç, Barış, et al.
Publicado: (2021)

Mitoautophagy: A Unique Self-Destructive Path Mitochondria of Upper Motor Neurons With TDP-43 Pathology Take, Very Early in ALS
por: Gautam, Mukesh, et al.
Publicado: (2019)

MCP1-CCR2 and neuroinflammation in the ALS motor cortex with TDP-43 pathology
por: Jara, Javier H., et al.
Publicado: (2019)

Upper motor neurons are a target for gene therapy and UCHL1 is necessary and sufficient to improve cellular integrity of diseased upper motor neurons
por: Genç, Barış, et al.
Publicado: (2022)

NU-9 improves health of hSOD1(G93A) mouse upper motor neurons in vitro, especially in combination with riluzole or edaravone
por: Genç, Barış, et al.
Publicado: (2022)

The case of a 69‐year‐old man with COVID‐19 and encephalopathy
por: Cline, Trevor E., et al.
Publicado: (2020)

Atypical Fibroxanthoma in a 115-Year-Old Patient
por: Goktas, Fethiye Berna, et al.
Publicado: (2015)

The Old Year
Publicado: (1899)

45 year old female with decreased vision in left eye
por: Kumar, Mukesh, et al.
Publicado: (2017)

The case of an 81‐year‐old man with left toes paralysis after cardiac procedure
por: Lam, Keng, et al.
Publicado: (2021)

Mammograms in 35-year-old to 39-year-old symptomatic patients
por: Lim, KA, et al.
Publicado: (2012)

The Electrophysiological Determinants of Corticospinal Motor Neuron Vulnerability in ALS
por: Jara, Javier H., et al.
Publicado: (2020)

Ibrutinib in patients over 80 years old with CLL: a multicenter Italian cohort
por: Reda, Gianluigi, et al.
Publicado: (2022)

The Best of the Old Year
Publicado: (1918)

Ten years old
por: Chatterjee, Sandip
Publicado: (2016)

Year-Old Babies
Publicado: (1891)

Ninety Years Old
Publicado: (1874)

Year Old Eggs
Publicado: (1871)

How to Be 80 Year Old and Have a VO(2max) of a 35 Year Old
por: Karlsen, Trine, et al.
Publicado: (2015)

Silent Corticotroph Tumor with Adrenocortical Choristoma in an Eleven-year-old Boy
por: Turan, Hande, et al.
Publicado: (2022)

Correction for Stern et al., Organic carbon concentrations in 3.5-billion-year-old lacustrine mudstones of Mars
Publicado: (2023)

Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms
por: Gautam, Mukesh, et al.
Publicado: (2016)

Pregnancy in Parkinson's disease with PARK2 mutations()()
por: Sazci, Ali, et al.
Publicado: (2019)

False belief understanding and “cool” inhibitory control in 3-and 4-years-old Italian children
por: Bellagamba, Francesca, et al.
Publicado: (2015)

Screening for Developmental Disorders in 3- and 4-Year-Old Italian Children: A Preliminary Study
por: Catino, Elena, et al.
Publicado: (2017)

Acute Cardiac Tamponade in a 77-year-old Italian Woman with Erdheim-Chester Disease
por: Kyriakopoulou, Maria, et al.
Publicado: (2016)

Schwannoma Localized Retroperitoneally in a 14-Year-Old Boy
por: Cayirli, Hasan, et al.
Publicado: (2016)

Longitudinal evidence for 4-year-olds’ but not 2- and 3-year-olds’ false belief-related action anticipation
por: Grosse Wiesmann, Charlotte, et al.
Publicado: (2018)

Evidence for an early innate immune response in the motor cortex of ALS
por: Jara, Javier H., et al.
Publicado: (2017)

The 2000 year old man /
por: Brooks, Mel, 1926-
Publicado: (1981)

CERN is 25 years old!
por: CERN Press Office. Geneva
Publicado: (1979)

CERN is 25 years old
por: Anthoine, R
Publicado: (1979)

www is 20 years old
Publicado: (2009)

The Nineteen-Year-Old Probationer
Publicado: (1920)

The Six-Year-Old Molars
Publicado: (1888)

Cannot write session to /tmp/vufind_sessions/sess_od1ugd2po2115divjuujqocton