Tay-Sachs disease andHEXA mutations among Moroccan Jews

Kaufman, Moritz; Grinshpun‐Cohen, Julia; Karpati, Mazal; Peleg, Leah; Goldman, Boleslaw; Akstein, Edna; Adam, A.; Navon, Ruth

doi:10.1002/(sici)1098-1004(1997)10:4<295::aid-humu5>3.0.co;2-g

Cited by 13 publications

(2 citation statements)

References 25 publications

(23 reference statements)

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“…This is likely attributable to the low affinity between a-subunits, leading to detectable but limited amounts of Hex S. The less severe juvenile and adult-onset forms of TSD can often be traced back to mutations that allow some preservation of Hex A function (approximately 1–5% of normal) due to improper folding or dimerization of enzymes. Most missense mutations result in misfolded proteins, which are detected by the endoplasmic reticulum quality control system and degraded through its endoplasmic reticulum-associated degradation pathway (ERAD) before finally being processed through proteasome degradation [ 165 ].…”

Section: Tay–sachs Diseasementioning

confidence: 99%

Decoding Neurodegeneration: A Comprehensive Review of Molecular Mechanisms, Genetic Influences, and Therapeutic Innovations

Voicu,

Tataru,

Toader

et al. 2023

IJMS

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Neurodegenerative disorders often acquire due to genetic predispositions and genomic alterations after exposure to multiple risk factors. The most commonly found pathologies are variations of dementia, such as frontotemporal dementia and Lewy body dementia, as well as rare subtypes of cerebral and cerebellar atrophy-based syndromes. In an emerging era of biomedical advances, molecular–cellular studies offer an essential avenue for a thorough recognition of the underlying mechanisms and their possible implications in the patient’s symptomatology. This comprehensive review is focused on deciphering molecular mechanisms and the implications regarding those pathologies’ clinical advancement and provides an analytical overview of genetic mutations in the case of neurodegenerative disorders. With the help of well-developed modern genetic investigations, these clinically complex disturbances are highly understood nowadays, being an important step in establishing molecularly targeted therapies and implementing those approaches in the physician’s practice.

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Section: Tay–sachs Diseasementioning

confidence: 99%

Decoding Neurodegeneration: A Comprehensive Review of Molecular Mechanisms, Genetic Influences, and Therapeutic Innovations

Voicu,

Tataru,

Toader

et al. 2023

IJMS

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show abstract

“…This screening has been carried out in Israel since the 1970s, being offered to all couples who are at increased risk of having children with this disease. When the screening program started, only Ashkenazic Jews were considered as being at increased risk, but with the passing years carriers have been identified in other Jewish communities, especially Moroccan Jews (Kaufman et al 1997). Today, since matings between different Jewish communities in Israel constitute about one-third of all matings (Cohen 1998), carriers may be found across the entire Jewish population in Israel.…”

Section: Introductionmentioning

confidence: 99%