Guy Helman

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D. Williamson, Guy Helman et autres

us, nl, sa, pt, tr, ir, iq, gb, de, au (code pays fourni par la source)

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

Brianna Disanza, Giulia S. Porcari, Lívia Sertori Finoti, Leonardo Ramos-Rodriguez et autres

Branched-chain amino acid transaminase-1 (BCAT1) initiates the catabolism of branched-chain amino acids (BCAAs), which are essential for neurologic function. However, the role of BCAT1 in neurodevelopment is largely unknown. Here, we identify compound heterozygous BCAT1 variants in a patient with a severe …

us, au (code pays fourni par la source)

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace, Carlos A. Dominguez Gonzalez, Chad D. Williamson, Guy Helman et autres

BLOC1S1 encodes a subunit shared by the BLOC-1 and BORC hetero-octameric complexes that regulate various endolysosomal processes. Here, we report the identification of seven distinct variants in BLOC1S1 in eleven individuals from seven independent families presenting with early psychomotor delay, hypotonia, spasticity, …

us, nl, sa, pt, tr, ir, iq, gb, de, au (code pays fourni par la source)

GWAS of Protein Biomarkers in Pediatric ARDS

Guy Helman, Rui Feng, Nadir Yehya

Abstract Rationale: Acute respiratory distress syndrome (ARDS) is a significant contributor to intensive care unit admissions, morbidity, and mortality. Biomarkers have increasingly been used to dissect heterogeneity and mechanisms underlying ARDS, including in pediatrics. Genetic evaluation may identify variants associated with severity …

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The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

Francesco Gavazzi, Brittany A. Charsar, Eline M. C. Hamilton, Jacqueline A. Erler et autres

us, nl, au, jp, cn, br, bg, be, it, gb, es, ca (code pays fourni par la source)

The natural history of variable subtypes in pediatric-onset TUBB4A-related disorders

Adeline L. Vanderver, Francesco Gavazzi, Brittany A. Charsar, Jacqueline A. Erler et autres

us, gb, ca, nl (code pays fourni par la source)

Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy

Carlos Dominguez Gonzalez, Leslie E. Sanderson, Raffaella Depace, Guy Helman et autres

us, nl, sa, pt, de, gb, au (code pays fourni par la source)

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

Emma M. J. Passchier, Quinty Bisseling, Guy Helman, Rosalina M.L. van Spaendonk et autres

The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilepsy and slow cognitive decline. No treatment is available. Classic MLC is caused …

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Approaches to diagnosis for individuals with a suspected inherited white matter disorder

Guy Helman, Jennifer L. Orthmann‐Murphy, Adeline L. Vanderver

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BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMENT IN NEURODEGENERATION: NEW INSIGHTS AND THERAPEUTIC IMPLICATIONS

Brianna Disanza, Rajesh Angireddy, Emma M. Welter, Guy Helman et autres

Neurodegenerative disease (ND) is a heterogeneous group of disorders characterized by the progressive loss of neurologic function. Alterations in branched-chain amino acid (BCAA) metabolism have been linked to ND pathogenesis. Recently, we discovered a rare patient with biallelic variants in branched-chain amino …

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BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) AS A NOVEL CANDIDATE GENE FOR PEDIATRIC NEURODEGENERATION

Brianna Disanza, Cas Simons, Guy Helman, Ryan J. Taft et autres

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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro et autres

Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA biology. The TEFM …

gb, ca, se, in, au, fr, it, Égypte, pt (code pays fourni par la source)