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Maria Teresa Bassi

Researcher at Laboratory of Molecular Biology

Publications -  121
Citations -  10723

Maria Teresa Bassi is an academic researcher from Laboratory of Molecular Biology. The author has contributed to research in topics: Gene & Hereditary spastic paraplegia. The author has an hindex of 42, co-authored 113 publications receiving 9720 citations. Previous affiliations of Maria Teresa Bassi include Pasteur Institute & University of Siena.

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Journal ArticleDOI

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, +2522 more
- 21 Jan 2016 - 
TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.
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Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Lídia Feliubadaló, +38 more
- 01 Sep 1999 - 
TL;DR: The data establish that mutations in SLC7A9 cause non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT, and a new transcript belonging to a family of light subunits of amino acid transporters is identified.
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Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV

Maria Teresa Bassi, +5 more
- 01 Nov 2000 - 
TL;DR: Haplotype analysis indicates that the two major founder mutations, which account for >95% of MLIV chromosomes in Ashkenazi Jewish patients, are identified and are likely to play an important role in endocytosis.
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SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.

Giuseppe Borsani, +11 more
- 01 Mar 1999 - 
TL;DR: Two new transcripts homologous to amino acid transporters, highly expressed in kidney and mapping in the LPI critical region are identified and Mutational analysis of both transcripts revealed that SLC7A7 (for solute carrier family 7, member 7) is mutated in LPI.
Journal ArticleDOI

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Maria Teresa Bassi, +9 more
- 01 May 1995 - 
TL;DR: Five intragenic deletions and a 2 bp insertion resulting in a premature stop codon were identified from DMA analysis of patients with OA1, indicating that the OA2 gene is identified.